Comprehensive List of Genetic and Rare Diseases

Rare Disease	Gene(s) Involved	Impact
Cystic Fibrosis (CF)	Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)	Disrupts chloride ion transport, leading to thick mucus buildup in lungs and other organs.
Sickle Cell Anemia (SCA)	Hemoglobin Subunit Beta (HBB)	Causes red blood cells to become sickle-shaped, leading to pain, organ damage, and increased risk of infections.
Duchenne Muscular Dystrophy (DMD)	Dystrophin (DMD)	Prevents dystrophin production, leading to progressive muscle weakness and degeneration.
Huntington‘s Disease (HD)	Huntingtin (HTT)	Causes production of a toxic protein that damages brain cells, leading to movement disorders, cognitive decline, and psychiatric problems.
Phenylketonuria (PKU)	Phenylalanine Hydroxylase (PAH)	Prevents breakdown of phenylalanine, leading to high levels that can cause intellectual disability, seizures, and other neurological problems.
Tay-Sachs Disease	HEXA	Prevents breakdown of GM2 ganglioside, leading to toxic buildup in nerve cells and progressive neurological deterioration.
Neurofibromatosis Type 1 (NF1)	Neurofibromin 1 (NF1)	Causes growth of tumors along nerves, skin changes, and bone deformities.
Marfan Syndrome	Fibrillin 1 (FBN1)	Affects connective tissue, leading to tall stature, long limbs, and heart problems.
Rett Syndrome	Methyl-CpG-binding Protein 2 (MECP2)	Primarily affects girls, causing loss of speech, hand use, and other neurological functions.
Gaucher Disease	Glucocerebrosidase (GBA)	Leads to buildup of fatty substances in cells and organs, causing a range of symptoms, including enlarged organs, bone problems, and anemia.
Progeria	Lamin A/C (LMNA)	Causes accelerated aging, leading to premature death.
Pompe Disease	Acid Alpha-Glucosidase (GAA)	Causes buildup of glycogen in muscles, leading to muscle weakness and respiratory problems.
Fabry Disease	Alpha-galactosidase A (GLA)	Causes buildup of a fatty substance called globotriaosylceramide (GL-3) in cells, leading to pain, kidney problems, and heart disease.
Niemann-Pick Disease Type C	NPC1 or NPC2	Causes buildup of cholesterol and other lipids in cells, leading to neurological problems, liver disease, and other complications.
Epidermolysis Bullosa (EB)	Various genes involved in skin structure and function	Causes skin to be fragile and blister easily, often leading to pain and infection.
Wilson‘s Disease	ATP7B	Causes copper buildup in the liver, brain, and other organs, leading to liver damage, neurological problems, and psychiatric symptoms.
Prader-Willi Syndrome	Loss of paternal genes on chromosome 15	Causes insatiable appetite, leading to obesity and other health problems.
Angelman Syndrome	Loss of maternal genes on chromosome 15	Causes developmental delays, intellectual disability, speech impairment, and movement problems.
Batten Disease	Various genes involved in lysosomal function	Causes progressive loss of vision, motor skills, and cognitive function.
Amyotrophic Lateral Sclerosis (ALS)	SOD1, C9orf72, and others	Causes progressive degeneration of motor neurons, leading to muscle weakness, paralysis, and eventually respiratory failure.
Spinal Muscular Atrophy (SMA)	Survival Motor Neuron 1 (SMN1)	Causes loss of motor neurons, leading to muscle weakness and atrophy.
Charcot-Marie-Tooth Disease (CMT)	Various genes involved in nerve function	Causes damage to peripheral nerves, leading to muscle weakness, sensory loss, and deformities.
Hereditary Hemochromatosis	HFE	Causes excessive iron absorption, leading to iron overload in organs such as the liver, heart, and pancreas.
Alpha-1 Antitrypsin Deficiency	SERPINA1	Causes low levels of alpha-1 antitrypsin, a protein that protects the lungs, leading to lung and liver disease.
Von Willebrand Disease	VWF	Affects blood clotting, leading to easy bruising, prolonged bleeding, and heavy menstrual periods.
Hemophilia A	Factor VIII (F8)	Causes deficiency of clotting factor VIII, leading to prolonged bleeding.
Hemophilia B	Factor IX (F9)	Causes deficiency of clotting factor IX, leading to prolonged bleeding.
Ehlers-Danlos Syndrome (EDS)	Various genes involved in collagen production	Causes stretchy skin, loose joints, and fragile tissues.
Osteogenesis Imperfecta (OI)	COL1A1 or COL1A2	Causes brittle bones that break easily.
Achondroplasia	FGFR3	Causes a form of dwarfism characterized by short limbs and a normal-sized torso.
Alagille Syndrome	JAG1 or NOTCH2	Affects multiple organ systems, primarily the liver, heart, and skeletal system, causing jaundice, heart defects, and distinctive facial features.
Barth Syndrome	TAZ	Affects multiple organ systems, primarily the heart, muscles, and immune system, causing cardiomyopathy, muscle weakness, and recurrent infections.
CHARGE Syndrome	CHD7	Affects multiple organ systems, including the eyes, ears, heart, and nose, causing coloboma (a hole in the eye), choanal atresia (blocked nasal passages), heart defects, and growth retardation.
Congenital Myasthenic Syndromes	Various genes involved in neuromuscular transmission	Causes muscle weakness and fatigue that worsens with activity.
Cri du Chat Syndrome	Deletion of part of chromosome 5	Causes a high-pitched cry in infants, intellectual disability, microcephaly (small head), and distinctive facial features.
DiGeorge Syndrome	Deletion of part of chromosome 22	Causes a range of developmental problems, including heart defects, immune system problems, and learning difficulties.
Familial Dysautonomia	IKBKAP	Affects the autonomic nervous system, which controls involuntary bodily functions such as breathing, heart rate, and digestion, causing a range of symptoms, including difficulty regulating body temperature, blood pressure, and pain perception.
Friedreich‘s Ataxia	FXN	Causes progressive damage to the nervous system, leading to ataxia (difficulty coordinating movements), muscle weakness, and heart problems.
Hereditary Angioedema (HAE)	SERPING1	Causes episodes of swelling in various parts of the body, including the face, hands, feet, and throat.
Krabbe Disease	GALC	Causes progressive destruction of myelin, the protective coating around nerve fibers, leading to severe neurological problems.
Lesch-Nyhan Syndrome	HPRT1	Causes neurological and behavioral problems, including self-injurious behavior, intellectual disability, and involuntary movements.
McCune-Albright Syndrome	GNAS	Causes abnormal bone growth, skin pigmentation, and hormonal imbalances.
Mucopolysaccharidosis (MPS)	Various genes involved in lysosomal enzyme production	Causes buildup of complex sugars in cells and tissues, leading to a range of symptoms, including skeletal abnormalities, intellectual disability, and organ damage.
Noonan Syndrome	PTPN11 and others	Causes distinctive facial features, short stature, heart defects, and developmental delays.
Osteopetrosis	Various genes involved in bone resorption	Causes dense, brittle bones that are prone to fractures.
Primary Ciliary Dyskinesia (PCD)	Various genes involved in cilia function	Causes problems with the tiny hair-like structures called cilia that line the airways and other organs, leading to recurrent respiratory infections, infertility, and other complications.
Smith-Lemli-Opitz Syndrome	DHCR7	Causes a range of developmental and intellectual disabilities, as well as distinctive facial features and behavioral problems.
Tuberous Sclerosis Complex (TSC)	TSC1 or TSC2	Causes growth of noncancerous tumors in various organs, including the brain, kidneys, heart, lungs, and skin.
Usher Syndrome	Various genes involved in hearing and vision	Causes hearing loss and progressive vision loss.
Williams Syndrome	Deletion of part of chromosome 7	Causes distinctive facial features, cardiovascular problems, developmental delays, and a unique personality characterized by friendliness and outgoingness.
X-Linked Adrenoleukodystrophy (X-ALD)	ABCD1	Affects the nervous system and adrenal glands, causing a range of symptoms, including behavioral problems, vision loss, and eventually, loss of motor function and cognitive abilities.
Zellweger Spectrum Disorder	Various genes involved in peroxisome function	Affects the formation and function of peroxisomes, organelles that break down fatty acids and toxic substances, leading to a range of symptoms, including liver and kidney problems, developmental delays, and neurological abnormalities.
Wolman Disease	Lysosomal acid lipase (LIPA)	Causes buildup of fats and cholesterol in the liver, spleen, and other organs, leading to liver failure, malnutrition, and other complications.
Wiedemann-Rautenstrauch Syndrome	Unknown	Causes distinctive facial features, including a prominent forehead and a "pinched" nose, as well as premature aging, sparse hair, and growth retardation.
Werner Syndrome	WRN	Causes premature aging, including graying hair, wrinkles, cataracts, and an increased risk of age-related diseases such as cancer and heart disease.
Vici Syndrome	EPG5	Affects multiple organ systems, causing agenesis of the corpus callosum (a missing or underdeveloped connection between the brain‘s hemispheres), cataracts, cardiomyopathy, combined immunodeficiency, and hypopigmentation (decreased skin and hair pigmentation).
Trichothiodystrophy (TTD)	Various genes involved in DNA repair	Causes brittle hair, scaly skin, intellectual disability, and an increased sensitivity to sunlight.
Treacher Collins Syndrome	TCOF1, POLR1C, or POLR1D	Causes craniofacial abnormalities, including underdeveloped facial bones, downward-slanting eyes, and hearing loss.
Thanatophoric Dysplasia	FGFR3	Causes a severe form of skeletal dysplasia, leading to short limbs, a narrow chest, and often, stillbirth or death in infancy.
Spondyloepiphyseal Dysplasia Congenita (SEDC)	COL2A1	Causes dwarfism, skeletal abnormalities, and sometimes, problems with vision and hearing.
Sjögren-Larsson Syndrome	ALDH3A2	Causes dry, scaly skin, intellectual disability, spasticity (stiff muscles), and eye problems.
Smith-Magenis Syndrome	Deletion of part of chromosome 17 or RAI1 mutation	Causes distinctive facial features, developmental delays, intellectual disability, sleep disturbances, and behavioral problems.
Shwachman-Diamond Syndrome	SBDS	Affects the bone marrow, pancreas, and skeletal system, causing decreased production of blood cells, pancreatic insufficiency, and skeletal abnormalities.
Seckel Syndrome	ATR or other genes	Causes dwarfism, microcephaly (small head), and distinctive facial features.
Rubinstein-Taybi Syndrome	CREBBP or EP300	Causes distinctive facial features, broad thumbs and toes, intellectual disability, and an increased risk of certain cancers.
Rothmund-Thomson Syndrome	RECQL4	Causes skin rash, sparse hair, skeletal abnormalities, and an increased risk of certain cancers.
Peutz-Jeghers Syndrome	STK11	Causes development of polyps in the gastrointestinal tract and an increased risk of several types of cancer.
Pendred Syndrome	SLC26A4 (PDS)	Causes hearing loss and goiter (enlarged thyroid gland).
Pallister-Killian Syndrome	Isochromosome 12p	Causes intellectual disability, hypotonia (weak muscles), distinctive facial features, and seizures.
Nijmegen Breakage Syndrome	NBN	Causes increased sensitivity to radiation, immunodeficiency, and an increased risk of cancer.
Oculocutaneous Albinism (OCA)	TYR, OCA2, TYRP1, or SLC45A2	Causes a lack of melanin pigment in the skin, hair, and eyes, leading to pale skin, light-colored hair, and vision problems.
Maple Syrup Urine Disease (MSUD)	BCKDHA, BCKDHB, or DBT	Prevents the breakdown of certain amino acids, causing a sweet-smelling urine odor and neurological problems.
Lysosomal Storage Disorders (LSDs)	Various genes involved in lysosomal enzyme production	Cause a buildup of various substances in cells due to a deficiency in lysosomal enzymes, leading to a wide range of symptoms depending on the specific disorder.
Long QT Syndrome (LQTS)	KCNQ1, KCNH2, or SCN5A	Causes an abnormal heart rhythm that can lead to fainting, seizures, or sudden cardiac death.
Kabuki Syndrome	KMT2D or KDM6A	Causes distinctive facial features, intellectual disability, skeletal abnormalities, and other health problems.
Joubert Syndrome	Various genes involved in cilium assembly	Causes abnormalities in the cerebellum (a part of the brain that controls balance and coordination) and brainstem, leading to ataxia (uncoordinated movements), abnormal breathing patterns, and developmental delays.
Hermansky-Pudlak Syndrome	HPS1, HPS3, HPS4, or HPS5	Causes albinism (lack of pigmentation), bleeding problems, and lung disease.
Hereditary Spastic Paraplegia (HSP)	Various genes involved in nerve function	Causes progressive stiffness and weakness in the legs.
Hypophosphatasia	ALPL	Causes defective bone mineralization, leading to bone pain, fractures, and deformities.
Homocystinuria	CBS, MTHFR, or MTRR	Causes buildup of homocysteine in the blood, leading to vision problems, skeletal abnormalities, and an increased risk of blood clots.
Glycogen Storage Diseases (GSDs)	Various genes involved in glycogen metabolism	Cause a buildup of glycogen (a stored form of glucose) in various organs, leading to a range of symptoms depending on the specific disorder.
Glanzmann Thrombasthenia	ITGA2B or ITGB3	Causes a bleeding disorder characterized by easy bruising and prolonged bleeding.
Fanconi Anemia	Various genes involved in DNA repair	Causes bone marrow failure, leading to decreased production of blood cells, as well as an increased risk of leukemia and other cancers.
Ewing Sarcoma	EWSR1 and FLI1	Causes a type of bone cancer that typically affects children and young adults.
Dravet Syndrome	SCN1A	Causes a severe form of epilepsy characterized by prolonged seizures, developmental delays, and cognitive impairment.
Diamond-Blackfan Anemia	RPS19 and others	Causes a decrease in red blood cell production, leading to anemia.
Cornelia de Lange Syndrome (CdLS)	NIPBL, SMC1A, SMC3, RAD21, or HDAC8	Causes distinctive facial features, intellectual disability, growth retardation, and limb abnormalities.
Chédiak-Higashi Syndrome	LYST	Causes albinism (lack of pigmentation), recurrent infections, and neurological problems.
Canavan Disease	ASPA	Causes a deficiency of an enzyme that breaks down a substance called N-acetylaspartic acid (NAA), leading to brain damage and developmental delays.
Bloom Syndrome	BLM	Causes short stature, skin rash, increased sensitivity to sunlight, and an increased risk of cancer.
Burnett Syndrome	Abnormal calcium metabolism	Excessive calcium levels in the blood, leading to fatigue, weakness, kidney stones, and bone pain.
Carney Complex	PRKAR1A	Causes noncancerous tumors in various organs, including the heart, skin, and endocrine glands.
Castleman Disease	Unknown, but often associated with HHV-8	Causes overgrowth of lymph node tissue, leading to a variety of symptoms depending on the type and location of the overgrowth.
Chronic Granulomatous Disease	CYBB, CYBA, NCF1, NCF2, or NCF4	Affects the immune system, making it difficult for the body to fight infections.
Cloves Syndrome	PIK3CA	Causes overgrowth of tissues and organs, vascular malformations, and other abnormalities.
Cohen Syndrome	VPS13B	Causes intellectual disability, obesity, distinctive facial features, and other developmental abnormalities.
Costello Syndrome	HRAS	Causes distinctive facial features, heart problems, developmental delays, and an increased risk of certain cancers.
Crouzon Syndrome	FGFR2	Causes premature fusion of the skull bones, leading to distinctive facial features and other abnormalities.
Erdheim-Chester Disease	BRAF	Causes inflammation and the formation of granulomas (small areas of inflammation) in various tissues and organs.
Fibrodysplasia Ossificans Progressiva (FOP)	ACVR1	Causes bone to form in muscles and other connective tissues, leading to progressive loss of mobility.
Gorlin Syndrome	PTCH1 or PTCH2	Causes multiple basal cell carcinomas (a type of skin cancer), jaw cysts, and other skeletal abnormalities.
Griscelli Syndrome Type 2	RAB27A	Affects pigmentation and immune system function, leading to partial albinism, silvery-gray hair, and recurrent infections.
Hereditary Hemorrhagic Telangiectasia (HHT)	ENG, ACVRL1, or SMAD4	Causes abnormal blood vessel formation, leading to nosebleeds, skin discolorations, and potentially serious internal bleeding.
Hypohidrotic Ectodermal Dysplasia (HED)	EDA, EDAR, or EDARADD	Affects the development of hair, teeth, sweat glands, and nails, causing sparse hair, missing or malformed teeth, and an inability to sweat normally.
Kabuki Syndrome Type 2	KDM6A	Similar to Kabuki Syndrome Type 1 but caused by mutations in a different gene.
Kallmann Syndrome	KAL1, FGFR1, PROKR2, or PROK2	Affects the development of the reproductive system and the sense of smell, causing delayed puberty, infertility, and an inability to smell.
Kartagener Syndrome	DNAH5, DNAI1, or DNAH11	Causes primary ciliary dyskinesia (PCD), which affects the function of cilia (tiny hair-like structures) in the respiratory system and reproductive organs, leading to recurrent respiratory infections, infertility, and situs inversus (organs on the opposite side of the body).
Leigh Syndrome	Various genes involved in mitochondrial function	Causes a progressive neurodegenerative disorder that affects the central nervous system, leading to a variety of symptoms, including muscle weakness, movement disorders, and breathing problems.
Leber Hereditary Optic Neuropathy (LHON)	MT-ND1, MT-ND4, or MT-ND6	Causes vision loss due to damage to the optic nerve.
McCune-Albright Syndrome (MAS)	GNAS1	Causes abnormal bone growth, skin pigmentation (café-au-lait spots), and endocrine problems (such as precocious puberty).
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)	ACADM	Prevents the body from breaking down medium-chain fatty acids, which can lead to a life-threatening metabolic crisis during periods of fasting or illness.
Metachromatic Leukodystrophy (MLD)	ARSA	Affects the nervous system, causing progressive loss of motor skills and cognitive function.
Miller Syndrome	DHODH	Causes distinctive facial features, limb abnormalities, and other developmental problems.
Morquio Syndrome	GALNS or GLB1	Affects the skeletal system, causing short stature, skeletal deformities, and joint problems.
Mucolipidosis Type II (I-cell disease)	GNPTAB	Affects lysosomes (cellular recycling centers), causing a buildup of waste products in cells and tissues, leading to skeletal abnormalities, developmental delays, and often, early death.
Multiple Endocrine Neoplasia Type 1 (MEN1)	MEN1	Causes tumors in the endocrine glands, such as the parathyroid glands, pancreas, and pituitary gland.
Myotonic Dystrophy Type 1 (DM1)	DMPK	Causes muscle weakness, myotonia (difficulty relaxing muscles), cataracts, and other symptoms.
Nager Syndrome	SF3B4	Causes craniofacial abnormalities, limb defects, and other developmental problems.
Noonan Syndrome with Multiple Lentigines (LEOPARD Syndrome)	PTPN11	A type of Noonan syndrome with lentigines (dark skin spots), distinctive facial features, and a higher risk of certain heart problems.
Omenn Syndrome	RAG1 or RAG2	A severe combined immunodeficiency (SCID) disorder, affecting the immune system‘s ability to fight infections.
Pantothenate Kinase-Associated Neurodegeneration (PKAN)	PANK2	Causes a progressive neurodegenerative disorder characterized by movement problems, dystonia (involuntary muscle contractions), and iron accumulation in the brain.
Paroxysmal Nocturnal Hemoglobinuria (PNH)	PIGA	Causes the breakdown of red blood cells, leading to anemia, blood clots, and other complications.
Pelizaeus-Merzbacher Disease (PMD)	PLP1	Affects the formation of myelin (the protective covering around nerve fibers), causing neurological problems, including developmental delays, muscle weakness, and spasticity.
Pfeiffer Syndrome	FGFR1 or FGFR2	Causes premature fusion of skull bones, resulting in a misshapen head and face, as well as other skeletal abnormalities.
Polycystic Kidney Disease (PKD)	PKD1 or PKD2	Causes the formation of cysts in the kidneys, leading to kidney enlargement and eventually, kidney failure.
Porphyria	Various genes involved in heme production	Causes a group of disorders that result from a buildup of porphyrins (natural chemicals that help form hemoglobin), leading to a variety of symptoms, including skin sensitivity, abdominal pain, and neurological problems.
Primary Hyperoxaluria Type 1	AGXT	Causes excessive production of oxalate, a substance that can form kidney stones and lead to kidney damage.
Primary Immunodeficiency Disorders (PIDs)	Various genes involved in immune function	A group of disorders that affect the immune system‘s ability to fight infections.
Propionic Acidemia	PCCA or PCCB	Prevents the body from breaking down certain amino acids and fats, leading to a buildup of toxic substances in the blood and other tissues.
Proteus Syndrome	AKT1	Causes overgrowth of bones, skin, and other tissues, leading to a variety of deformities and complications.
Pulmonary Arterial Hypertension (PAH)	BMPR2, ACVRL1, ENG, or SMAD9	Causes high blood pressure in the arteries that supply the lungs, leading to shortness of breath, fatigue, and other symptoms.
Retinitis Pigmentosa (RP)	Various genes involved in retinal function	Causes progressive vision loss due to degeneration of the retina (the light-sensitive tissue at the back of the eye).
Rhizomelic Chondrodysplasia Punctata (RCDP)	PEX7, GNPAT, or AGPS	Affects the formation of peroxisomes (organelles involved in metabolism), causing skeletal abnormalities, intellectual disability, and other health problems.
Sandhoff Disease	HEXB	Similar to Tay-Sachs disease, but caused by mutations in a different gene.
Sanfilippo Syndrome	SGSH, NAGLU, HGSNAT, or GNS	Affects lysosomes (cellular recycling centers), causing a buildup of heparan sulfate in cells and tissues, leading to progressive neurological deterioration and other symptoms.
Scleroderma	Unknown, but may involve immune system dysregulation	Causes thickening and hardening of the skin and connective tissues, as well as damage to internal organs.
Severe Combined Immunodeficiency (SCID)	Various genes involved in immune function	Causes a severe lack of immune function, making individuals highly susceptible to infections.
Spinal and Bulbar Muscular Atrophy (SBMA)	AR (Androgen Receptor) gene	Causes progressive muscle weakness and atrophy, primarily affecting males.
Stargardt Disease	ABCA4	Causes progressive vision loss due to degeneration of the macula (the central part of the retina responsible for sharp, central vision).
Stickler Syndrome	COL2A1, COL11A1, or COL11A2	Affects connective tissue, causing a variety of symptoms, including vision problems, hearing loss, joint pain, and skeletal abnormalities.
Taybi-Linder Syndrome (TALS)	RNU4ATAC	Causes microcephaly (small head), skeletal abnormalities, and developmental delays.
Tetrahydrobiopterin Deficiency (THBD)	Various genes involved in tetrahydrobiopterin synthesis	Causes a deficiency of tetrahydrobiopterin (BH4), a cofactor needed for the production of neurotransmitters and other important molecules, leading to neurological problems, movement disorders, and cognitive impairment.
Thalassemia	HBA1, HBA2, or HBB	Causes a decrease in hemoglobin production, leading to anemia and other complications.
Thrombotic Thrombocytopenic Purpura (TTP)	ADAMTS13	Causes a decrease in the activity of ADAMTS13, an enzyme that cleaves von Willebrand factor, leading to the formation of blood clots and a low platelet count.
Timothy Syndrome	CACNA1C	Causes a heart rhythm disorder (long QT syndrome), developmental delays, and distinctive facial features.
Tuberous Sclerosis Complex (TSC)	TSC1 or TSC2	Causes the growth of noncancerous tumors in various organs, including the brain, kidneys, heart, lungs, and skin.
Tyrosinemia Type I	FAH	Prevents the breakdown of tyrosine (an amino acid), leading to liver and kidney damage.
Usher Syndrome	Various genes involved in hearing and vision	Causes hearing loss and progressive vision loss due to retinitis pigmentosa.
Vascular Ehlers-Danlos Syndrome (vEDS)	COL3A1	Affects the production of collagen, a protein that provides strength and structure to blood vessels and other tissues, leading to fragile blood vessels, bruising, and an increased risk of organ rupture.
Wiskott-Aldrich Syndrome	WAS	Affects the immune system and blood clotting, causing recurrent infections, eczema, and easy bruising.
Wolfram Syndrome	WFS1	Causes diabetes mellitus, optic atrophy (vision loss), deafness, and diabetes insipidus (excessive thirst and urination).
Xeroderma Pigmentosum (XP)	Various genes involved in DNA repair	Causes extreme sensitivity to ultraviolet (UV) light, leading to skin cancers and other skin problems.
X-Linked Agammaglobulinemia (XLA)	BTK	Affects the immune system, preventing the production of antibodies, leading to recurrent infections.
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)	EDA	A more severe form of hypohidrotic ectodermal dysplasia (HED) that primarily affects males.
X-Linked Severe Combined Immunodeficiency (X-SCID)	IL2RG	A severe combined immunodeficiency (SCID) disorder that primarily affects males, causing a lack of T cells and natural killer (NK) cells, leading to severe immune system dysfunction.
Aicardi Syndrome	Unknown	Primarily affects females, causing agenesis of the corpus callosum (a missing or underdeveloped connection between the brain‘s hemispheres), infantile spasms (a type of seizure), and chorioretinal lacunae (abnormal areas in the retina).
Alkaptonuria (AKU)	HGD	Causes a buildup of homogentisic acid in the body, leading to darkening of the urine, arthritis, and other complications.
Alström Syndrome	ALMS1	Causes obesity, blindness, deafness, diabetes mellitus, and other multi-systemic problems.
Ankylosing Spondylitis	HLA-B27 (and other genes)	A type of arthritis that primarily affects the spine, causing inflammation and pain.
Apert Syndrome	FGFR2	Causes premature fusion of skull bones, resulting in a misshapen head and face, as well as other skeletal abnormalities.
Arteriovenous Malformation (AVM)	Unknown	A tangle of abnormal blood vessels connecting arteries and veins in the brain or spinal cord, which can rupture and cause bleeding.
Bardet-Biedl Syndrome	Various genes, including BBS1, BBS2, BBS4, BBS7, BBS9, BBS10, BBS12, and MKS1	Causes obesity, retinitis pigmentosa (a degenerative eye disease), polydactyly (extra fingers or toes), kidney problems, and learning disabilities.
Behçet‘s Disease	Unknown, but may be related to autoimmune dysregulation	Causes inflammation in blood vessels throughout the body, leading to a variety of symptoms, including mouth sores, genital sores, skin lesions, and eye inflammation.
Birt-Hogg-Dubé Syndrome	FLCN	Causes benign tumors on the skin, lung cysts, and an increased risk of kidney cancer.
Blau Syndrome	NOD2	Causes a rare form of childhood arthritis, uveitis (eye inflammation), and skin rash.
Bernard-Soulier Syndrome	GP1BA, GP1BB, or GP9	Causes a bleeding disorder characterized by large platelets, low platelet count, and prolonged bleeding time.
Brugada Syndrome	SCN5A (most common), but can involve other genes related to cardiac ion channels	Causes an abnormal heart rhythm that can lead to sudden cardiac death.
Campomelic Dysplasia	SOX9	Causes skeletal dysplasia (abnormal bone and cartilage development) with bowed limbs, distinctive facial features, and often, ambiguous genitalia.
Catel-Manzke Syndrome	TGDS	Causes craniofacial abnormalities, including hypertelorism (widely spaced eyes), cleft palate, and other skeletal abnormalities.
Cerebrotendinous Xanthomatosis (CTX)	CYP27A1	Causes a buildup of cholesterol and other fats in the brain, tendons, and other tissues, leading to neurological problems, cataracts, and other complications.
CHARGE Syndrome	CHD7	Causes a pattern of birth defects affecting the eyes, ears, heart, nose, and growth.
Chondrodysplasia Punctata	Various genes, often related to peroxisome function	A group of disorders that affect bone and cartilage development, causing skeletal abnormalities, growth problems, and other complications.
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)	Unknown, but may be autoimmune	Causes progressive weakness and impaired sensory function in the legs and arms due to damage to the myelin sheath (protective covering of nerves).
Citrullinemia Type I	ASS1	Prevents the body from properly disposing of ammonia, a waste product, leading to a buildup of ammonia in the blood and potentially life-threatening complications.
Cleidocranial Dysplasia	RUNX2	Causes abnormal development of bones and teeth, including a missing or underdeveloped collarbone, delayed closure of the skull, and dental abnormalities.
Coffin-Lowry Syndrome	RPS6KA3	Primarily affects males, causing intellectual disability, distinctive facial features, skeletal abnormalities, and other health problems.
Cohen Syndrome	VPS13B	Causes intellectual disability, obesity, microcephaly (small head), distinctive facial features, and other developmental problems.
Costello Syndrome	HRAS	Causes distinctive facial features, loose skin, heart problems, developmental delays, and an increased risk of certain cancers.
Crigler-Najjar Syndrome	UGT1A1	Prevents the breakdown of bilirubin (a yellow pigment produced by the liver), leading to jaundice (yellowing of the skin and eyes) and potentially serious complications.
Crouzon Syndrome with Acanthosis Nigricans	FGFR3	A variant of Crouzon syndrome associated with acanthosis nigricans (darkening and thickening of the skin in body folds and creases).
Cystinosis	CTNS	Causes a buildup of cystine (an amino acid) in cells and tissues, leading to kidney damage, eye problems, and other complications.
Dentinogenesis Imperfecta	DSPP	Causes abnormal tooth development, leading to weak, discolored teeth that chip and break easily.
Dermatomyositis	Unknown, but may be autoimmune	Causes muscle weakness and inflammation, as well as a characteristic skin rash.
Devic Disease (Neuromyelitis Optica Spectrum Disorder)	Unknown, but antibodies against aquaporin-4 (AQP4) are often present	Causes inflammation of the optic nerves and spinal cord, leading to vision loss and neurological problems.
Dravet Syndrome	SCN1A	A severe form of epilepsy characterized by prolonged seizures and developmental delays, usually starting in infancy.
Dubowitz Syndrome	Unknown	Causes distinctive facial features, growth retardation, eczema, and intellectual disability.
Dyskeratosis Congenita (DC)	DKC1, TERC, TERT, TINF2, or NOP10	Causes premature aging of certain tissues, including the skin, nails, and bone marrow, and increases the risk of cancer.
Edwards Syndrome (Trisomy 18)	Extra copy of chromosome 18	Causes a range of severe birth defects, including heart defects, kidney problems, and intellectual disability.
Ehlers-Danlos Syndrome (EDS)	Various genes involved in collagen production	Causes stretchy skin, loose joints, and fragile tissues.
Familial Mediterranean Fever (FMF)	MEFV	Causes recurrent episodes of fever, abdominal pain, and inflammation of the chest and joints.
Familial Adenomatous Polyposis (FAP)	APC	Causes hundreds or thousands of polyps (growths) to form in the colon and rectum, leading to a high risk of colorectal cancer.
Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)	GNAS	Causes abnormal bone growth, skin pigmentation, and hormonal imbalances.
Gaucher Disease Type 1	GBA	A milder form of Gaucher disease that causes enlarged spleen and liver, bone problems, and sometimes, lung and neurological problems.
Gaucher Disease Type 2	GBA	A severe form of Gaucher disease that causes rapid neurological deterioration and early death, usually in infancy.
Gaucher Disease Type 3	GBA	An intermediate form of Gaucher disease with varying severity of symptoms, including liver and spleen enlargement, bone problems, and neurological problems that develop later in life.
Giant Axonal Neuropathy (GAN)	GAN	Causes progressive nerve damage, leading to muscle weakness, loss of coordination, and other neurological problems.
Giant Cell Arteritis (GCA)	Unknown, but may be autoimmune	Causes inflammation of the lining of the arteries, most often those in the head, leading to headaches, jaw pain, vision problems, and other symptoms.
Glutaric Aciduria Type I	GCDH	Prevents the breakdown of certain amino acids, leading to a buildup of glutaric acid in the body and causing neurological problems.
Goodpasture Syndrome	Unknown, but may be autoimmune	Causes the immune system to attack the kidneys and lungs, leading to kidney failure and bleeding in the lungs.
Gracile Syndrome	BCS1L	Affects mitochondrial function, leading to early-onset multi-organ failure and often, death in infancy or early childhood.
Hirschsprung‘s Disease	RET, EDNRB, or other genes	Affects the large intestine, causing a lack of nerve cells that control bowel movements, leading to constipation, abdominal distension, and other problems.
Holoprosencephaly	SHH, ZIC2, SIX3, or TGIF1	Affects the development of the brain, causing the forebrain (the front part of the brain) to not divide properly into two hemispheres, leading to a range of developmental problems and facial abnormalities.
Hyperinsulinism of Infancy (HI)	ABCC8, KCNJ11, or other genes	Causes the pancreas to produce too much insulin, leading to low blood sugar levels (hypoglycemia) and potentially serious complications.
Hypophosphatemic Rickets (XLH)	PHEX	Causes low levels of phosphate in the blood, leading to weak bones, bone pain, and deformities.
Ichthyosis	Various genes involved in skin barrier function	A group of disorders that cause dry, scaly skin.
Incontinentia Pigmenti (IP)	IKBKG	Primarily affects females, causing skin rashes, hair loss, dental abnormalities, and neurological problems.
Joubert Syndrome	Various genes, including AHI1, NPHP1, and CEP290	Affects the cerebellum and brainstem, causing ataxia (uncoordinated movements), abnormal breathing patterns, and developmental delays.
Kallmann Syndrome	KAL1, FGFR1, PROKR2, or PROK2	Affects the development of the reproductive system and the sense of smell, causing delayed puberty, infertility, and anosmia (loss of smell).
Kennedy‘s Disease (SBMA)	AR (Androgen Receptor) gene	A neuromuscular disorder that causes progressive muscle weakness and wasting, primarily affecting males.
Kniest Dysplasia	COL2A1	Affects cartilage and bone development, causing dwarfism, skeletal abnormalities, and joint problems.
Langerhans Cell Histiocytosis (LCH)	Unknown, but may involve immune system dysregulation	Causes a buildup of Langerhans cells (a type of immune cell) in various tissues and organs, leading to a variety of symptoms depending on the location and extent of the buildup.
Larsen Syndrome	FLNB	Affects connective tissue, causing joint dislocations, skeletal abnormalities, and distinctive facial features.
Leber Congenital Amaurosis (LCA)	Various genes involved in retinal function	Causes severe vision loss or blindness at birth or in early childhood.
Legius Syndrome	SPRED1	Causes café-au-lait spots (light brown marks on the skin), freckling, and an increased risk of tumors.
Lissencephaly	LIS1 or DCX	Causes a smooth brain (lack of normal folds in the cerebral cortex), leading to severe developmental delays and seizures.
Loeys-Dietz Syndrome	TGFBR1, TGFBR2, SMAD3, TGFB2, or TGFB3	Affects connective tissue, causing aneurysms (weakening of blood vessel walls), skeletal abnormalities, and other complications.
Lynch Syndrome	MLH1, MSH2, MSH6, PMS2, or EPCAM	Increases the risk of several types of cancer, including colorectal cancer, endometrial cancer, and ovarian cancer.
Hirschsprung‘s Disease	RET, EDNRB, or other genes	Affects the large intestine, causing a lack of nerve cells that control bowel movements, leading to constipation, abdominal distension, and other problems.
Holoprosencephaly	SHH, ZIC2, SIX3, or TGIF1	Affects the development of the brain, causing the forebrain (the front part of the brain) to not divide properly into two hemispheres, leading to a range of developmental problems and facial abnormalities.
Hyperinsulinism of Infancy (HI)	ABCC8, KCNJ11, or other genes	Causes the pancreas to produce too much insulin, leading to low blood sugar levels (hypoglycemia) and potentially serious complications.
Hypophosphatemic Rickets (XLH)	PHEX	Causes low levels of phosphate in the blood, leading to weak bones, bone pain, and deformities.
Ichthyosis	Various genes involved in skin barrier function	A group of disorders that cause dry, scaly skin.
Incontinentia Pigmenti (IP)	IKBKG	Primarily affects females, causing skin rashes, hair loss, dental abnormalities, and neurological problems.
Joubert Syndrome	Various genes, including AHI1, NPHP1, and CEP290	Affects the cerebellum and brainstem, causing ataxia (uncoordinated movements), abnormal breathing patterns, and developmental delays.
Kallmann Syndrome	KAL1, FGFR1, PROKR2, or PROK2	Affects the development of the reproductive system and the sense of smell, causing delayed puberty, infertility, and anosmia (loss of smell).
Kennedy‘s Disease (SBMA)	AR (Androgen Receptor) gene	A neuromuscular disorder that causes progressive muscle weakness and wasting, primarily affecting males.
Kniest Dysplasia	COL2A1	Affects cartilage and bone development, causing dwarfism, skeletal abnormalities, and joint problems.
Langerhans Cell Histiocytosis (LCH)	Unknown, but may involve immune system dysregulation	Causes a buildup of Langerhans cells (a type of immune cell) in various tissues and organs, leading to a variety of symptoms depending on the location and extent of the buildup.
Larsen Syndrome	FLNB	Affects connective tissue, causing joint dislocations, skeletal abnormalities, and distinctive facial features.
Leber Congenital Amaurosis (LCA)	Various genes involved in retinal function	Causes severe vision loss or blindness at birth or in early childhood.
Legius Syndrome	SPRED1	Causes café-au-lait spots (light brown marks on the skin), freckling, and an increased risk of tumors.
Lissencephaly	LIS1 or DCX	Causes a smooth brain (lack of normal folds in the cerebral cortex), leading to severe developmental delays and seizures.
Loeys-Dietz Syndrome	TGFBR1, TGFBR2, SMAD3, TGFB2, or TGFB3	Affects connective tissue, causing aneurysms (weakening of blood vessel walls), skeletal abnormalities, and other complications.
Lynch Syndrome	MLH1, MSH2, MSH6, PMS2, or EPCAM	Increases the risk of several types of cancer, including colorectal cancer, endometrial cancer, and ovarian cancer.
Mabry Syndrome	PIGV	Affects the glycosylation of proteins, leading to intellectual disability, seizures, and other neurological problems.
Mal de Meleda	SLURP1	Causes a skin disorder characterized by thickening of the skin on the palms of the hands and soles of the feet.
Maple Syrup Urine Disease (MSUD)	BCKDHA, BCKDHB, or DBT	Prevents the breakdown of certain amino acids, leading to a sweet-smelling urine odor and neurological problems.
MECP2 Duplication Syndrome	Duplication of the MECP2 gene	Primarily affects males, causing intellectual disability, developmental delays, recurrent infections, and other health problems.
Meckel-Gruber Syndrome	Various genes, including MKS1, TMEM67, and CEP290	Affects the development of multiple organs, including the kidneys, liver, and brain, leading to a variety of birth defects and often, stillbirth or early death.
Menkes Disease	ATP7A	Affects copper metabolism, leading to copper deficiency in the body and causing neurological problems, kinky hair, and other complications.
Methylmalonic Acidemia (MMA)	MUT, MMAA, MMAB, or MMADHC	Prevents the body from processing certain proteins and fats, leading to a buildup of methylmalonic acid in the blood and potentially serious complications.
Miller-Dieker Syndrome (MDS)	Deletion of part of chromosome 17	Causes lissencephaly (smooth brain), severe intellectual disability, seizures, and other neurological problems.
Moebius Syndrome	Unknown, but may involve disruption of brain development	Causes facial paralysis and an inability to move the eyes from side to side.
Morquio A Syndrome	GALNS	A type of mucopolysaccharidosis that affects the skeletal system, causing short stature, skeletal deformities, and joint problems.
Morquio B Syndrome	GLB1	A type of mucopolysaccharidosis that affects the skeletal system, causing skeletal deformities and joint problems, but generally milder than Morquio A syndrome.
Myotubular Myopathy	MTM1	Primarily affects males, causing severe muscle weakness and hypotonia (low muscle tone) from birth.
Nail-Patella Syndrome (NPS)	LMX1B	Affects the nails, knees, elbows, and kidneys, causing abnormalities in these areas.
Narcolepsy with Cataplexy	Typically caused by a lack of hypocretin (orexin) in the brain	Causes excessive daytime sleepiness, sudden loss of muscle tone (cataplexy), and other sleep-related symptoms.
Neonatal Diabetes Mellitus	ABCC8, KCNJ11, INS, or other genes	Causes diabetes in newborns or infants.
Netherton Syndrome	SPINK5	Causes a skin disorder characterized by red, scaly skin, brittle hair, and a predisposition to allergies.
Niemann-Pick Disease Type A	SMPD1	Affects lysosomes (cellular recycling centers), causing a buildup of sphingomyelin (a type of fat) in cells, leading to severe neurological damage and early death.
Niemann-Pick Disease Type B	SMPD1	A milder form of Niemann-Pick disease that causes enlarged liver and spleen, but generally no neurological problems.
Oculopharyngeal Muscular Dystrophy (OPMD)	PABPN1	Causes progressive muscle weakness in the eyelids, throat, and limbs.
Osteoporosis Pseudoglioma Syndrome (OPPG)	LRP5	Causes severe osteoporosis (weak and brittle bones) and vision loss due to retinal detachment.
Pachyonychia Congenita (PC)	KRT6A, KRT6B, KRT6C, KRT16, or KRT17	Causes thickened nails, painful blisters on the hands and feet, and other skin problems.
Pallister-Hall Syndrome	GLI3	Causes extra fingers or toes (polydactyly), hypothalamic hamartoma (a benign brain tumor), and other developmental abnormalities.
Parry-Romberg Syndrome	Unknown, but may be autoimmune	Causes progressive shrinkage and degeneration of the tissues on one side of the face.
Patau Syndrome (Trisomy 13)	Extra copy of chromosome 13	Causes a range of severe birth defects, including cleft lip and palate, heart defects, brain abnormalities, and extra fingers or toes.
Peutz-Jeghers Syndrome	STK11	Causes the development of polyps in the digestive tract and an increased risk of various types of cancer.
Phelan-McDermid Syndrome	Deletion of part of chromosome 22 or SHANK3 mutation	Causes intellectual disability, developmental delays, absent or delayed speech, and autism spectrum disorder (ASD).
Polyarteritis Nodosa (PAN)	Unknown, but may be autoimmune	Causes inflammation of small and medium-sized arteries throughout the body, leading to a variety of symptoms, including fatigue, fever, muscle aches, and organ damage.
Pompe Disease (Infantile-Onset)	GAA	Causes severe muscle weakness, respiratory failure, and heart problems in infants, often leading to early death.
Pompe Disease (Late-Onset)	GAA	Causes progressive muscle weakness, respiratory problems, and heart problems that develop later in childhood or adulthood.
Porphyria Cutanea Tarda (PCT)	UROD, HFE, or other genes	Causes skin sensitivity to sunlight, blistering, and other skin problems due to a buildup of porphyrins (natural chemicals involved in heme production).
Prader-Willi Syndrome	Loss of paternal genes on chromosome 15	Causes insatiable appetite, leading to obesity and other health problems, as well as intellectual disability, behavioral problems, and distinctive facial features.
Primary Sclerosing Cholangitis (PSC)	Unknown, but may be autoimmune	Causes inflammation and scarring of the bile ducts, leading to liver damage and potentially, liver failure.
Progressive Supranuclear Palsy (PSP)	Unknown, but may involve tau protein buildup	Causes progressive problems with balance, movement, vision, speech, and swallowing.
Pseudoxanthoma Elasticum (PXE)	ABCC6	Affects connective tissue, causing yellow, raised patches on the skin, vision problems, and cardiovascular problems.
Pulmonary Alveolar Proteinosis (PAP)	GM-CSF, CSF2RA, or CSF2RB	Causes a buildup of surfactant (a substance that helps the lungs function properly) in the lungs, leading to respiratory problems.
Refsum Disease	PHYH	Prevents the breakdown of phytanic acid (a type of fatty acid), leading to a buildup of phytanic acid in the blood and tissues, causing neurological problems, vision loss, and other complications.
Rett Syndrome	MECP2	Primarily affects girls, causing a loss of speech, hand use, and other neurological functions.
Riley-Day Syndrome (Familial Dysautonomia)	IKBKAP	Affects the autonomic nervous system, causing problems with involuntary bodily functions such as breathing, heart rate, and digestion.
Russell-Silver Syndrome	Imprinting defect on chromosome 11 or maternal uniparental disomy of chromosome 7	Causes growth retardation, short stature, triangular-shaped face, and other developmental problems.
Sarcoidosis	Unknown, but may be autoimmune	Causes inflammation and the formation of granulomas (small areas of inflammation) in various tissues and organs, most commonly the lungs.
Schinzel-Giedion Syndrome	SETBP1	Causes severe developmental delays, distinctive facial features, skeletal abnormalities, and an increased risk of tumors.
Schwartz-Jampel Syndrome	HSPG2	Causes a muscle disorder characterized by muscle stiffness, bone abnormalities, and distinctive facial features.
Segawa Syndrome (Dopa-Responsive Dystonia)	GCH1, TH, or SPR	Causes a movement disorder characterized by dystonia (involuntary muscle contractions), parkinsonism (tremor, rigidity, and slowness of movement), and other neurological symptoms.
Severe Combined Immunodeficiency (SCID)	Various genes involved in immune function	Causes a severe lack of immune function, making individuals highly susceptible to infections.
Shprintzen-Goldberg Syndrome	SKI	Causes craniosynostosis (premature fusion of skull bones), skeletal abnormalities, intellectual disability, and other health problems.
Sideroblastic Anemia	Various genes involved in heme synthesis	Causes the bone marrow to produce ring sideroblasts (abnormal red blood cells with iron deposits around their nuclei), leading to anemia.
Situs Inversus	Unknown	Causes the organs in the chest and abdomen to be positioned in a mirror image of their normal location.
Smith-Lemli-Opitz Syndrome	DHCR7	Causes a cholesterol deficiency, leading to a range of developmental and intellectual disabilities, as well as distinctive facial features and behavioral problems.
Smith-Magenis Syndrome	Deletion of part of chromosome 17 or RAI1 mutation	Causes distinctive facial features, intellectual disability, developmental delays, sleep disturbances, and behavioral problems.
Sotos Syndrome	NSD1	Causes overgrowth in childhood, distinctive facial features, learning disabilities, and an increased risk of certain tumors.
Spinal Muscular Atrophy (SMA)	SMN1	Causes a progressive loss of motor neurons, leading to muscle weakness and atrophy.
Spinocerebellar Ataxia (SCA)	Various genes, including ATXN1, ATXN2, ATXN3, and many others	A group of neurodegenerative disorders that cause progressive problems with coordination, balance, and speech.
Sturge-Weber Syndrome	GNAQ	Causes a port-wine stain (a birthmark on the face), seizures, developmental delays, and glaucoma.
TAR Syndrome	Deletion or mutation of chromosome 1q21.1	Causes thrombocytopenia (low platelet count) and absence of the radius bone in the forearm.
Tay-Sachs Disease	HEXA	Affects lysosomes (cellular recycling centers), causing a buildup of GM2 ganglioside in nerve cells, leading to progressive neurological deterioration and early death, usually in infancy.
Telangiectasia Macularis Eruptiva Perstans (TMEP)	MST1	A rare form of mastocytosis (a disorder caused by too many mast cells) that causes small, red spots on the skin.
Tetrasomy 18p	Extra copy of the short arm of chromosome 18	Causes a variety of developmental and intellectual disabilities, as well as other health problems.
Thanatophoric Dysplasia	FGFR3	A severe skeletal dysplasia that causes short limbs, a narrow chest, and often, stillbirth or death in infancy.
Thrombocytopenia-Absent Radius (TAR) Syndrome	RBM8A	Causes low platelet count and the absence of the radius bone in the forearm.
Thymic Aplasia (DiGeorge Syndrome)	Deletion of part of chromosome 22	Causes a range of developmental problems, including heart defects, immune system deficiencies, and learning difficulties.
Turner Syndrome	Missing or incomplete X chromosome	Primarily affects females, causing short stature, ovarian insufficiency, and other developmental problems.
Urea Cycle Disorders	Various genes involved in urea cycle enzymes	Prevent the body from properly disposing of ammonia, a waste product, leading to a buildup of ammonia in the blood and potentially life-threatening complications.
Van der Woude Syndrome	IRF6	Causes cleft lip and/or palate, lip pits (small depressions in the lower lip), and sometimes, missing teeth.
VATER/VACTERL Association	Unknown	A non-random association of birth defects, including vertebral defects, anal atresia (imperforate anus), cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities.
VHL Syndrome (Von Hippel-Lindau Disease)	VHL	Causes the growth of tumors and cysts in various organs, including the kidneys, pancreas, adrenal glands, and central nervous system.
Waardenburg Syndrome	PAX3, MITF, SOX10, EDN3, or EDNRB	Causes hearing loss, changes in pigmentation (such as white patches of hair or different-colored eyes), and distinctive facial features.
Walker-Warburg Syndrome	POMT1, POMT2, FKTN, FKRP, LARGE, or POMGNT1	Causes a severe form of congenital muscular dystrophy, affecting the muscles, brain, and eyes, often leading to death in infancy or early childhood.
Weill-Marchesani Syndrome	FBN1 or ADAMTSL4	Affects connective tissue, causing short stature, short fingers and toes, lens dislocation (in the eye), and other complications.
Wolfram Syndrome	WFS1	Causes diabetes mellitus, optic atrophy (vision loss), deafness, and diabetes insipidus (excessive thirst and urination).
Xeroderma Pigmentosum (XP)	Various genes involved in DNA repair	Causes extreme sensitivity to ultraviolet (UV) light, leading to skin cancers and other skin problems.
X-Linked Ichthyosis	STS	Causes dry, scaly skin due to a deficiency of steroid sulfatase, an enzyme involved in the breakdown of cholesterol sulfate.
X-Linked Lymphoproliferative Syndrome (XLP)	SH2D1A or XIAP	Causes an extreme immune reaction to Epstein-Barr virus (EBV), leading to a variety of complications, including severe infections, lymphoma, and other cancers.
X-Linked Myotubular Myopathy	MTM1	Primarily affects males, causing severe muscle weakness and hypotonia (low muscle tone) from birth.
Zellweger Spectrum Disorder	Various genes involved in peroxisome function	Affects the formation and function of peroxisomes, organelles that break down fatty acids and toxic substances, leading to a range of symptoms, including liver and kidney problems, developmental delays, and neurological abnormalities.
1p36 Deletion Syndrome	Deletion of a region on the short arm of chromosome 1	Causes a wide range of developmental problems and medical conditions, including intellectual disability, seizures, heart defects, and vision problems.
22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)	Deletion of part of chromosome 22	Causes a variety of developmental problems, including heart defects, immune system deficiencies, cleft palate, learning difficulties, and psychiatric disorders.
3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)	MCCC1 or MCCC2	Prevents the breakdown of the amino acid leucine, leading to a buildup of toxic substances in the body and causing neurological problems, seizures, and other complications.
4p- Syndrome (Wolf-Hirschhorn Syndrome)	Deletion of part of chromosome 4	Causes distinctive facial features (a "Greek warrior helmet" appearance), intellectual disability, seizures, and other developmental problems.
Trimethylaminuria (TMAU)	FMO3	Prevents the body from breaking down trimethylamine, a chemical compound that produces a fishy odor, leading to a strong body odor.
Usher Syndrome	Various genes involved in hearing and vision	Causes hearing loss and progressive vision loss due to retinitis pigmentosa.
VACTERL Association	Unknown	A non-random association of birth defects affecting the vertebrae, anus, heart, trachea, esophagus, kidneys, and limbs.
Vanishing White Matter Disease (VWM)	EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5	Causes progressive loss of white matter (the tissue that connects different parts of the brain), leading to neurological problems, including ataxia (uncoordinated movements), spasticity (stiff muscles), and cognitive decline.
Vascular Ehlers-Danlos Syndrome (vEDS)	COL3A1	Affects connective tissue, causing fragile blood vessels, easy bruising, and an increased risk of organ rupture.
Vici Syndrome	EPG5	Affects multiple organ systems, causing agenesis of the corpus callosum (a missing or underdeveloped connection between the brain‘s hemispheres), cataracts, cardiomyopathy (heart muscle disease), combined immunodeficiency (a weakened immune system), and hypopigmentation (decreased skin and hair pigmentation).
Von Gierke Disease (GSD I)	G6PC	Prevents the breakdown of glycogen (a stored form of glucose) in the liver, leading to low blood sugar (hypoglycemia), liver enlargement, and other complications.
Von Willebrand Disease	VWF	Affects blood clotting, causing easy bruising, prolonged bleeding, and heavy menstrual periods.
Waldenström Macroglobulinemia	MYD88	A type of non-Hodgkin lymphoma (blood cancer) characterized by the overproduction of IgM antibodies.
Warburg Micro Syndrome	RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20	Causes microcephaly (small head), microphthalmia (small eyes), intellectual disability, and other developmental problems.
Wegener‘s Granulomatosis (GPA)	Unknown, but may be autoimmune	Causes inflammation of blood vessels throughout the body, primarily affecting the nose, sinuses, lungs, and kidneys.
Werner Syndrome	WRN	Causes premature aging, including graying hair, wrinkles, cataracts, and an increased risk of age-related diseases such as cancer and heart disease.
Williams Syndrome	Deletion of part of chromosome 7	Causes distinctive facial features, cardiovascular problems, developmental delays, and a unique personality characterized by friendliness and outgoingness.
Wilson‘s Disease	ATP7B	Causes a buildup of copper in the liver, brain, and other organs, leading to liver damage, neurological problems, and psychiatric symptoms.
Wolman Disease	Lysosomal acid lipase (LIPA)	Causes a buildup of fats and cholesterol in the liver, spleen, and other organs, leading to liver failure, malnutrition, and other complications.
Xeroderma Pigmentosum (XP)	Various genes involved in DNA repair	Causes extreme sensitivity to ultraviolet (UV) light, leading to skin cancers and other skin problems.
X-Linked Adrenoleukodystrophy (X-ALD)	ABCD1	Affects the nervous system and adrenal glands, causing a range of symptoms, including behavioral problems, vision loss, and eventually, loss of motor function and cognitive abilities.
X-Linked Sideroblastic Anemia (XLSA)	ALAS2	Primarily affects males, causing the bone marrow to produce ring sideroblasts (abnormal red blood cells with iron deposits around their nuclei), leading to anemia.
1q21.1 Deletion Syndrome	Deletion of a region on the long arm of chromosome 1	Causes a variety of developmental and intellectual disabilities, as well as distinctive facial features, heart defects, and other health problems.
22q13 Deletion Syndrome	Deletion of a region on the long arm of chromosome 22	Causes a variety of developmental and intellectual disabilities, as well as distinctive facial features, heart defects, and other health problems.
4H Leukodystrophy	POLR3A or POLR3B	Affects the white matter of the brain, causing neurological problems, including ataxia (uncoordinated movements), spasticity (stiff muscles), and cognitive decline.
Aarskog-Scott Syndrome	FGD1	Primarily affects males, causing short stature, distinctive facial features, skeletal abnormalities, and genital abnormalities.
Abetalipoproteinemia	MTTP	Prevents the body from absorbing fats and fat-soluble vitamins, leading to malnutrition, neurological problems, and other complications.
Acanthocheilonemiasis	Unknown	A parasitic infection caused by the roundworm Acanthocheilonema perstans, leading to skin rash, itching, and other symptoms.
Achard-Thiers Syndrome	Unknown	Causes diabetes mellitus, hypertension (high blood pressure), and other endocrine problems.
Acrodermatitis Enteropathica	SLC39A4	Causes a zinc deficiency, leading to skin rash, hair loss, diarrhea, and impaired immune function.
Acute Intermittent Porphyria (AIP)	HMBS	Causes a buildup of porphyrin precursors (chemicals involved in heme production) in the body, leading to abdominal pain, neurological problems, and psychiatric symptoms.
Adenomatous Polyposis Coli (APC)	APC	Causes the development of polyps (growths) in the colon and rectum, leading to a high risk of colorectal cancer.
Adrenal Insufficiency (Addison‘s Disease)	Unknown, but may be autoimmune	Causes the adrenal glands to produce insufficient amounts of cortisol and aldosterone (hormones essential for life), leading to fatigue, weakness, low blood pressure, and other symptoms.
Adrenoleukodystrophy (ALD)	ABCD1	Affects the nervous system and adrenal glands, causing a range of symptoms, including behavioral problems, vision loss, and eventually, loss of motor function and cognitive abilities.
Adult Polyglucosan Body Disease (APBD)	GBE1	Causes a buildup of glycogen (a stored form of glucose) in the brain and spinal cord, leading to neurological problems, including weakness, spasticity, and dementia.
Alagille Syndrome	JAG1 or NOTCH2	Affects multiple organ systems, primarily the liver, heart, and skeletal system, causing jaundice, heart defects, and distinctive facial features.
Tricho-Dento-Osseous Syndrome (TDO)	DLX3	Affects the development of hair, teeth, and bones, causing brittle hair, abnormally shaped teeth, and increased bone density.
Trifunctional Protein Deficiency	HADHA or HADHB	Affects the breakdown of fatty acids, leading to muscle weakness, cardiomyopathy (heart muscle disease), and hypoglycemia (low blood sugar).
Triple A Syndrome	AAAS	Affects the adrenal glands, autonomic nervous system, and achalasia (difficulty swallowing), causing a variety of symptoms, including alacrima (absence of tears), adrenal insufficiency, and esophageal problems.
Tuberous Sclerosis Complex (TSC)	TSC1 or TSC2	Causes the growth of noncancerous tumors in various organs, including the brain, kidneys, heart, lungs, and skin.
Tyrosinemia Type I	FAH	Prevents the breakdown of tyrosine (an amino acid), leading to liver and kidney damage.
Usher Syndrome	Various genes involved in hearing and vision	Causes hearing loss and progressive vision loss due to retinitis pigmentosa.
Vanishing White Matter Disease (VWM)	EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5	Causes progressive loss of white matter (the tissue that connects different parts of the brain), leading to neurological problems, including ataxia (uncoordinated movements), spasticity (stiff muscles), and cognitive decline.
VATER/VACTERL Association	Unknown	A non-random association of birth defects affecting the vertebrae, anus, heart, trachea, esophagus, kidneys, and limbs.
VHL Syndrome (Von Hippel-Lindau Disease)	VHL	Causes the growth of tumors and cysts in various organs, including the kidneys, pancreas, adrenal glands, and central nervous system.
VLCAD Deficiency	ACADVL	Prevents the breakdown of very long-chain fatty acids, which can lead to a life-threatening metabolic crisis during periods of fasting or illness.
Waardenburg Syndrome	PAX3, MITF, SOX10, EDN3, or EDNRB	Causes hearing loss, changes in pigmentation (such as white patches of hair or different-colored eyes), and distinctive facial features.
Walker-Warburg Syndrome	POMT1, POMT2, FKTN, FKRP, LARGE, or POMGNT1	Causes a severe form of congenital muscular dystrophy, affecting the muscles, brain, and eyes, often leading to death in infancy or early childhood.
Weill-Marchesani Syndrome	FBN1 or ADAMTSL4	Affects connective tissue, causing short stature, short fingers and toes, lens dislocation (in the eye), and other complications.
Werner Syndrome	WRN	Causes premature aging, including graying hair, wrinkles, cataracts, and an increased risk of age-related diseases such as cancer and heart disease.
Wilson‘s Disease	ATP7B	Causes a buildup of copper in the liver, brain, and other organs, leading to liver damage, neurological problems, and psychiatric symptoms.
Alport Syndrome	COL4A3, COL4A4, or COL4A5	Affects the kidneys, ears, and eyes, causing kidney disease, hearing loss, and vision problems.
Amelogenesis Imperfecta	AMELX, ENAM, MMP20, or KLK4	Causes defects in tooth enamel formation, leading to thin, discolored, and easily damaged teeth.
Amyloidosis	Various genes, often related to protein misfolding	Causes the buildup of amyloid proteins in organs and tissues, leading to a variety of symptoms depending on the affected organs.
Anderson-Fabry Disease	GLA	Causes a buildup of a fatty substance called globotriaosylceramide (GL-3) in cells, leading to pain, kidney problems, and heart disease.
Apert Syndrome	FGFR2	Causes premature fusion of skull bones, resulting in a misshapen head and face, as well as other skeletal abnormalities.
Arthrogryposis Multiplex Congenita (AMC)	Multiple genes, often affecting muscle or nerve development	Causes multiple joint contractures (stiffness) present at birth, leading to decreased range of motion and other complications.
Autoimmune Lymphoproliferative Syndrome (ALPS)	FAS, FASLG, or CASP10	Causes the immune system to attack the body‘s own cells, leading to enlarged lymph nodes, autoimmune disorders, and an increased risk of lymphoma.
Axenfeld-Rieger Syndrome	PITX2 or FOXC1	Affects the development of the eyes, teeth, and other structures in the front of the body, causing glaucoma, dental abnormalities, and distinctive facial features.
Bardet-Biedl Syndrome	Various genes, including BBS1-BBS18 and TTC8	Causes obesity, retinitis pigmentosa (a degenerative eye disease), polydactyly (extra fingers or toes), kidney problems, and learning disabilities.
Bartter Syndrome	Various genes involved in kidney function	Affects the kidneys‘ ability to reabsorb salt and other electrolytes, leading to low blood potassium levels, metabolic alkalosis, and other complications.
Beckwith-Wiedemann Syndrome (BWS)	Imprinting defect on chromosome 11 or CDKN1C mutation	Causes overgrowth, enlarged organs, an increased risk of childhood cancers, and other complications.
Benjamin Syndrome	FBN2	Affects connective tissue, causing tall stature, skeletal abnormalities, and sometimes, heart problems.
Beta-Thalassemia	HBB	Causes a decrease in hemoglobin production, leading to anemia and other complications.
Blau Syndrome	NOD2	Causes a rare form of childhood arthritis, uveitis (eye inflammation), and skin rash.
Bloom Syndrome	BLM	Causes short stature, skin rash, increased sensitivity to sunlight, and an increased risk of cancer.
Multiple Sclerosis (MS)	Multiple genes, as well as environmental factors	Causes the immune system to attack the protective covering (myelin) of nerve fibers in the brain and spinal cord, leading to a variety of neurological symptoms.
Multiple Sulfatase Deficiency (MSD)	SUMF1	Affects lysosomes (cellular recycling centers), causing a deficiency of multiple enzymes and leading to a range of symptoms, including skeletal abnormalities, intellectual disability, and neurological problems.
Mucopolysaccharidosis Type I (MPS I)	IDUA	Affects lysosomes, causing a buildup of glycosaminoglycans (GAGs) in cells and tissues, leading to skeletal abnormalities, organ damage, and intellectual disability.
Mucopolysaccharidosis Type II (MPS II, Hunter syndrome)	IDS	Primarily affects males, causing a buildup of GAGs in cells and tissues, leading to skeletal abnormalities, organ damage, and intellectual disability.
Mucopolysaccharidosis Type III (MPS III, Sanfilippo syndrome)	SGSH, NAGLU, HGSNAT, or GNS	Affects lysosomes, causing a buildup of heparan sulfate in cells and tissues, leading to progressive neurological deterioration and other symptoms.
Mucopolysaccharidosis Type IV (MPS IV, Morquio syndrome)	GALNS or GLB1	Affects lysosomes, causing a buildup of keratan sulfate or chondroitin 6-sulfate in cells and tissues, leading to skeletal abnormalities, joint problems, and other complications.
Mucopolysaccharidosis Type VI (MPS VI, Maroteaux-Lamy syndrome)	ARSB	Affects lysosomes, causing a buildup of dermatan sulfate in cells and tissues, leading to skeletal abnormalities, organ damage, and other complications.
Mucopolysaccharidosis Type VII (MPS VII, Sly syndrome)	GUSB	Affects lysosomes, causing a buildup of heparan sulfate, dermatan sulfate, and chondroitin sulfate in cells and tissues, leading to a range of symptoms, including skeletal abnormalities, organ damage, and intellectual disability.
Muscular Dystrophy, Congenital	Various genes, including LAMA2, POMT1, and POMT2	A group of muscle disorders that cause muscle weakness and wasting present at birth.
Myasthenia Gravis	Unknown, but may be autoimmune	Causes muscle weakness and fatigue that worsens with activity, often affecting the eyelids, facial muscles, and swallowing muscles.
Myelodysplastic Syndromes (MDS)	Various genetic mutations	A group of disorders that affect the bone marrow‘s ability to produce blood cells, leading to a low blood cell count and an increased risk of leukemia.
NEMO Deficiency Syndrome	IKBKG	Primarily affects males, causing immunodeficiency, susceptibility to infections, skin problems, and other complications.
Neurofibromatosis Type 2 (NF2)	NF2	Causes the growth of tumors on the nerves that control hearing and balance, leading to hearing loss, balance problems, and other neurological symptoms.
Neuronal Ceroid Lipofuscinoses (NCLs)	Various genes, including CLN1, CLN2, CLN3, and many others	A group of neurodegenerative disorders that cause progressive loss of vision, motor skills, and cognitive function.
Oculodentodigital Dysplasia (ODD)	GJA1	Affects the development of the eyes, teeth, and fingers, causing small eyes, small teeth, and fused or webbed fingers.
Ogden Syndrome	NAA10	Primarily affects males, causing intellectual disability, developmental delays, distinctive facial features, and seizures.
Opitz G/BBB Syndrome	MID1 or SPECC1L	Causes hypertelorism (widely spaced eyes), cleft lip and/or palate, hypospadias (a birth defect of the penis), and other developmental abnormalities.
Osteogenesis Imperfecta (OI)	COL1A1 or COL1A2	Causes bones to be brittle and easily fractured, sometimes leading to skeletal deformities and short stature.
Patau Syndrome (Trisomy 13)	Extra copy of chromosome 13	Causes a range of severe birth defects, including cleft lip and palate, heart defects, brain abnormalities, and extra fingers or toes.
Pendred Syndrome	SLC26A4	Causes congenital sensorineural hearing loss and goiter (enlarged thyroid gland).
Peutz-Jeghers Syndrome	STK11	Causes the development of polyps in the digestive tract and an increased risk of various types of cancer.
Pfeiffer Syndrome	FGFR1 or FGFR2	Causes premature fusion of skull bones, resulting in a misshapen head and face, as well as other skeletal abnormalities.
Phenylketonuria (PKU)	PAH	Prevents the breakdown of phenylalanine, an amino acid, leading to intellectual disability and other neurological problems if not treated early.
Pompe Disease	GAA	Causes a buildup of glycogen (a stored form of glucose) in muscles, leading to muscle weakness, respiratory problems, and heart problems.
Porphyria	Various genes involved in heme production	A group of disorders that result from a buildup of porphyrins (natural chemicals that help form hemoglobin), leading to a variety of symptoms, including skin sensitivity, abdominal pain, and neurological problems.
Prader-Labhart-Willi Syndrome (PLWS)	Loss of paternal genes on chromosome 15	Causes insatiable appetite, leading to obesity and other health problems, as well as intellectual disability, behavioral problems, and distinctive facial features.
Primary Biliary Cholangitis (PBC)	Unknown, but may be autoimmune	Causes slow, progressive destruction of the bile ducts in the liver.
Primary Ciliary Dyskinesia (PCD)	Various genes involved in cilia function	Causes problems with the tiny hair-like structures called cilia that line the airways and other organs, leading to recurrent respiratory infections, infertility, and situs inversus (organs on the opposite side of the body).
Primary Sclerosing Cholangitis (PSC)	Unknown, but may be autoimmune	Causes inflammation and scarring of the bile ducts, leading to liver damage and potentially, liver failure.
Progeria	LMNA	Causes accelerated aging, leading to premature death.
Propionic Acidemia	PCCA or PCCB	Prevents the body from breaking down certain amino acids and fats, leading to a buildup of toxic substances in the blood and other tissues.
Proteus Syndrome	AKT1	Causes overgrowth of bones, skin, and other tissues, leading to a variety of deformities and complications.
Pseudohypoparathyroidism (PHP)	GNAS, STX16, PRKAR1A, or PDE4D	Causes a resistance to parathyroid hormone (PTH), leading to low calcium levels in the blood and high phosphate levels.
Pulmonary Arterial Hypertension (PAH)	BMPR2, ACVRL1, ENG, or SMAD9	Causes high blood pressure in the arteries that supply the lungs, leading to shortness of breath, fatigue, and other symptoms.
Pyruvate Dehydrogenase Complex Deficiency (PDC Deficiency)	PDHA1, PDHB, DLAT, DLD, or PDHX	Impairs the body‘s ability to convert pyruvate (a product of glucose breakdown) into acetyl-CoA, leading to a buildup of lactic acid and neurological problems.
Rabson-Mendenhall Syndrome	INSR	Causes severe insulin resistance, leading to high blood sugar levels, growth abnormalities, and other complications.
Retinitis Pigmentosa (RP)	Various genes involved in retinal function	Causes progressive vision loss due to degeneration of the retina (the light-sensitive tissue at the back of the eye).
Rett Syndrome	MECP2	Primarily affects girls, causing a loss of speech, hand use, and other neurological functions.
Rhabdomyosarcoma (RMS)	PAX3, PAX7, or FOXO1	Causes a type of cancer that develops from muscle tissue.
Roberts Syndrome	ESCO2	Causes limb reduction defects, craniofacial abnormalities, and slow growth.
Rothmund-Thomson Syndrome	RECQL4	Causes skin rash, sparse hair, skeletal abnormalities, cataracts, and an increased risk of cancer.
Rubinstein-Taybi Syndrome	CREBBP or EP300	Causes broad thumbs and toes, distinctive facial features, intellectual disability, and an increased risk of certain cancers.
Sanfilippo Syndrome (MPS III)	SGSH, NAGLU, HGSNAT, or GNS	Affects lysosomes (cellular recycling centers), causing a buildup of heparan sulfate in cells and tissues, leading to progressive neurological deterioration and other symptoms.
Schindler Disease Type I	NAGA	Causes coarse facial features, reddish skin, enlarged liver and spleen, and neurological problems that appear in infancy or early childhood.
Schindler Disease Type II	NAGA	Causes milder symptoms than Type I, with onset in childhood or adolescence, including muscle weakness, ataxia (uncoordinated movements), and cognitive decline.
Schinzel-Giedion Syndrome	SETBP1	Causes severe developmental delays, distinctive facial features, skeletal abnormalities, and an increased risk of tumors.
Schwartz-Jampel Syndrome	HSPG2	Causes a muscle disorder characterized by muscle stiffness, bone abnormalities, and distinctive facial features.
Scleroderma (Systemic Sclerosis)	Unknown, but may be autoimmune	Causes thickening and hardening of the skin and connective tissues, as well as damage to internal organs.
Seckel Syndrome	ATR or other genes	Causes dwarfism, microcephaly (small head), and distinctive facial features.
Sedaghatian Type Spondylometaphyseal Dysplasia	TRPV4	Affects bone growth, causing short stature, skeletal deformities, and joint contractures (stiffness).
Septo-Optic Dysplasia (SOD)	HESX1, SOX2, SOX3, or OTX2	Affects the development of the optic nerves and the midline structures of the brain, causing vision problems, hormone deficiencies, and developmental delays.
Severe Combined Immunodeficiency (SCID)	Various genes involved in immune function	A group of rare disorders characterized by the absence or dysfunction of T lymphocytes and/or B lymphocytes, resulting in severe, life-threatening infections early in life.
Short Bowel Syndrome	Usually not caused by a single gene but may have genetic components	A malabsorptive disorder caused by surgical removal or congenital absence of a significant portion of the small intestine, leading to difficulty absorbing nutrients and fluids.
Shwachman-Diamond Syndrome	SBDS	Characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, and skeletal abnormalities.
Sideroblastic Anemia	Various genes involved in heme synthesis	A group of blood disorders characterized by the bone marrow producing ring sideroblasts (abnormal red blood cells with iron deposits around their nuclei), resulting in anemia.
Simpson-Golabi-Behmel Syndrome (SGBS)	GPC3	An overgrowth syndrome characterized by pre- and postnatal overgrowth, distinctive facial features, and an increased risk of tumors.
Sjögren‘s Syndrome	Unknown, but may be autoimmune	A chronic autoimmune disorder that primarily affects the exocrine glands (such as salivary and tear glands), causing dry eyes and mouth.
Smith-Lemli-Opitz Syndrome	DHCR7	A metabolic disorder that affects cholesterol synthesis, leading to a variety of developmental and intellectual disabilities, as well as distinctive facial features and behavioral problems.
Smith-Magenis Syndrome	Deletion of part of chromosome 17 or RAI1 mutation	A complex disorder characterized by intellectual disability, distinctive facial features, sleep disturbances, behavioral problems, and a range of other medical issues.
Sotos Syndrome	NSD1	An overgrowth syndrome characterized by rapid growth in early childhood, distinctive facial features, learning disabilities, and an increased risk of certain tumors.
Spinal Muscular Atrophy (SMA)	SMN1	A group of neuromuscular disorders characterized by progressive muscle weakness and atrophy due to the degeneration of motor neurons in the spinal cord and brainstem.
Spinocerebellar Ataxia (SCA)	Various genes, including ATXN1, ATXN2, ATXN3, and many others	A group of neurodegenerative disorders characterized by progressive problems with coordination, balance, and speech.
Split Hand/Foot Malformation (SHFM)	Various genes, including TP63, DLX5, DLX6, and DSS1	A congenital limb abnormality characterized by missing or partially missing fingers and/or toes, with deep clefts between the remaining digits.
Stargardt Disease	ABCA4	An inherited retinal disease that causes progressive central vision loss.
Stickler Syndrome	COL2A1, COL11A1, or COL11A2	A group of hereditary connective tissue disorders affecting the eyes, ears, joints, and skeleton.
Sturge-Weber Syndrome	GNAQ	A neurological disorder characterized by a port-wine stain birthmark, seizures, developmental delays, and glaucoma.
TAR Syndrome	Deletion or mutation of chromosome 1q21.1	Characterized by thrombocytopenia (low platelet count) and absence of the radius bone in the forearm.
Tay-Sachs Disease	HEXA	A lysosomal storage disorder causing progressive destruction of nerve cells in the brain and spinal cord, leading to death in early childhood.
Telomere Biology Disorders	TERT, TERC, DKC1, TINF2, or other genes involved in telomere maintenance	A group of disorders characterized by shortened telomeres (the protective caps at the ends of chromosomes), leading to bone marrow failure, lung disease, liver disease, and an increased risk of cancer.
Thanatophoric Dysplasia	FGFR3	A severe skeletal dysplasia that causes short limbs, a narrow chest, and often, stillbirth or death in infancy.
Treacher Collins Syndrome	TCOF1, POLR1C, or POLR1D	Causes craniofacial abnormalities, such as underdeveloped facial bones, downward-slanting eyes, and hearing loss.
Trichothiodystrophy (TTD)	ERCC2, ERCC3, GTF2H5, or other DNA repair genes	Causes brittle hair, scaly skin, intellectual disability, and sensitivity to sunlight.
Tuberous Sclerosis Complex (TSC)	TSC1 or TSC2	Causes the growth of noncancerous tumors in various organs, including the brain, kidneys, heart, lungs, and skin.
Turcot Syndrome	APC or one of the DNA mismatch repair genes	A rare inherited disorder characterized by the development of polyps in the colon and rectum, as well as an increased risk of brain tumors.
Tyrosinemia Type I	FAH	Prevents the breakdown of tyrosine (an amino acid), leading to liver and kidney damage.
Usher Syndrome	Various genes involved in hearing and vision	Causes hearing loss and progressive vision loss due to retinitis pigmentosa.
VACTERL Association	Unknown	A non-random association of birth defects affecting the vertebrae, anus, heart, trachea, esophagus, kidneys, and limbs.
Van der Woude Syndrome	IRF6	Causes cleft lip and/or palate, lip pits (small depressions in the lower lip), and sometimes, missing teeth.
VLCAD Deficiency	ACADVL	Prevents the breakdown of very long-chain fatty acids, which can lead to a life-threatening metabolic crisis during periods of fasting or illness.
Von Hippel-Lindau (VHL) Disease	VHL	Causes the growth of tumors and cysts in various organs, including the kidneys, pancreas, adrenal glands, and central nervous system.
Waardenburg Syndrome	PAX3, MITF, SOX10, EDN3, or EDNRB	Causes hearing loss, changes in pigmentation (such as white patches of hair or different-colored eyes), and distinctive facial features.
Walker-Warburg Syndrome	POMT1, POMT2, FKTN, FKRP, LARGE, or POMGNT1	Causes a severe form of congenital muscular dystrophy, affecting the muscles, brain, and eyes, often leading to death in infancy or early childhood.
Warburg Micro Syndrome	RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20	Causes microcephaly (small head), microphthalmia (small eyes), intellectual disability, and other developmental problems.
Weill-Marchesani Syndrome	FBN1 or ADAMTSL4	Affects connective tissue, causing short stature, short fingers and toes, lens dislocation (in the eye), and other complications.
Werner Syndrome	WRN	Causes premature aging, including graying hair, wrinkles, cataracts, and an increased risk of age-related diseases such as cancer and heart disease.
Wilson‘s Disease	ATP7B	Causes a buildup of copper in the liver, brain, and other organs, leading to liver damage, neurological problems, and psychiatric symptoms.
Wiskott-Aldrich Syndrome	WAS	Causes immunodeficiency, eczema, and thrombocytopenia (low platelet count), leading to recurrent infections, bleeding problems, and autoimmune disorders.
Wolcott-Rallison Syndrome	EIF2AK3	Causes neonatal diabetes mellitus, liver dysfunction, skeletal abnormalities, and growth retardation.
Wolfram Syndrome	WFS1	Causes diabetes mellitus, optic atrophy (vision loss), deafness, and diabetes insipidus (excessive thirst and urination).
X-Linked Agammaglobulinemia (XLA)	BTK	Affects the immune system, preventing the production of antibodies, leading to recurrent infections.
X-Linked Chronic Granulomatous Disease (X-CGD)	CYBB	A primary immunodeficiency disorder that impairs the immune system‘s ability to kill certain types of bacteria and fungi.
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)	EDA	Affects the development of hair, teeth, sweat glands, and nails, causing sparse hair, missing or malformed teeth, and an inability to sweat normally.
X-Linked Ichthyosis	STS	Causes dry, scaly skin due to a deficiency of steroid sulfatase, an enzyme involved in the breakdown of cholesterol sulfate.
X-Linked Lymphoproliferative Disease (XLP)	SH2D1A or XIAP	Causes an extreme immune reaction to Epstein-Barr virus (EBV), leading to a variety of complications, including severe infections, lymphoma, and other cancers.
X-Linked Myotubular Myopathy	MTM1	Primarily affects males, causing severe muscle weakness and hypotonia (low muscle tone) from birth.
X-Linked Severe Combined Immunodeficiency (X-SCID)	IL2RG	A severe combined immunodeficiency (SCID) disorder that primarily affects males, causing a lack of T cells and natural killer (NK) cells, leading to severe immune system dysfunction.
Yellow Nail Syndrome	FOXC2	Causes yellowing and thickening of the nails, lymphedema (swelling due to fluid buildup), and respiratory problems.
Zellweger Spectrum Disorder	Various genes involved in peroxisome function	Affects the formation and function of peroxisomes, organelles that break down fatty acids and toxic substances, leading to a range of symptoms, including liver and kidney problems, developmental delays, and neurological abnormalities.
1p36 Deletion Syndrome	Deletion of a region on the short arm of chromosome 1	Causes a wide range of developmental problems and medical conditions, including intellectual disability, seizures, heart defects, and vision problems.
2q37 Deletion Syndrome	Deletion of a region on the long arm of chromosome 2	Causes a variety of developmental and intellectual disabilities, as well as distinctive facial features, skeletal abnormalities, and other health problems.
3-Methylglutaconic Aciduria	Various genes, including AUH, OPA3, and TMEM70	A group of metabolic disorders that cause a buildup of 3-methylglutaconic acid in the body, leading to a variety of symptoms, including developmental delays, neurological problems, and muscle weakness.
4p- Syndrome (Wolf-Hirschhorn Syndrome)	Deletion of part of chromosome 4	Causes distinctive facial features (a "Greek warrior helmet" appearance), intellectual disability, seizures, and other developmental problems.
Ataxia Telangiectasia (A-T)	ATM	A neurodegenerative disorder characterized by ataxia (difficulty coordinating movements), telangiectasias (small, dilated blood vessels), immunodeficiency, and an increased risk of cancer.
Barth Syndrome	TAZ	A mitochondrial disorder that primarily affects males, causing muscle weakness, cardiomyopathy (weakening of the heart muscle), neutropenia (low white blood cell count), and growth delays.
Beckwith-Wiedemann Syndrome (BWS)	Imprinting defect on chromosome 11 or CDKN1C mutation	Characterized by overgrowth, macroglossia (large tongue), abdominal wall defects, and an increased risk of childhood tumors.
Biliary Atresia	Unknown, but likely involves multiple genes and environmental factors	A rare liver disease in infants that causes blockage of the bile ducts, leading to liver damage and requiring surgical intervention.
Bloom Syndrome	BLM	A genetic disorder characterized by short stature, skin rash, increased sensitivity to sunlight, and a predisposition to cancer.
CACNA1A-Related Disorders	CACNA1A	A group of neurological disorders caused by mutations in the CACNA1A gene, which encodes a calcium channel protein. These disorders can cause a variety of symptoms, including migraines, seizures, ataxia, and movement disorders.
Canavan Disease	ASPA	A rare genetic disorder that affects the central nervous system, leading to progressive brain damage and developmental delays.
Carney Complex	PRKAR1A	A multiple neoplasia syndrome characterized by spotty skin pigmentation, myxomas (benign tumors), and endocrine overactivity.
Cartilage-Hair Hypoplasia (CHH)	RMRP	A skeletal dysplasia characterized by short stature, fine hair, immune system deficiencies, and an increased risk of certain cancers.
Cat Eye Syndrome	Partial trisomy of chromosome 22	A chromosomal disorder characterized by a downward slant of the palpebral fissures (the openings between the eyelids), a coloboma (a hole) in the iris of the eye, anal atresia (a malformation of the anus), and other potential abnormalities.
CDG Syndrome (Congenital Disorders of Glycosylation)	Various genes involved in glycosylation	A group of metabolic disorders that affect the addition of sugar molecules to proteins, leading to a wide range of symptoms depending on the specific type of CDG.
Cerebral Amyloid Angiopathy (CAA)	APP, PSEN1, PSEN2, or other genes involved in amyloid precursor protein processing	Characterized by the accumulation of amyloid protein in the walls of blood vessels in the brain, which can lead to hemorrhagic strokes and dementia.
Cerebrotendinous Xanthomatosis (CTX)	CYP27A1	A lipid storage disorder that causes a buildup of cholesterol and cholestanol in the body, leading to neurological problems, cataracts, and other complications.
Trichothiodystrophy (TTD)	ERCC2, ERCC3, GTF2H5, or other DNA repair genes	A rare genetic disorder characterized by brittle hair, scaly skin, intellectual disability, and sensitivity to sunlight.
Trimethylaminuria (TMAU)	FMO3	Also known as "fish odor syndrome," this metabolic disorder prevents the breakdown of trimethylamine, a compound that produces a fishy odor, leading to a strong body odor in affected individuals.
Tuberous Sclerosis Complex (TSC)	TSC1 or TSC2	This genetic disorder causes noncancerous tumors to grow in the brain and other vital organs, leading to seizures, developmental delay, intellectual disability, and skin abnormalities.
Tyrosinemia Type I	FAH	This metabolic disorder prevents the breakdown of tyrosine (an amino acid), leading to liver and kidney damage. Early diagnosis and treatment are essential to prevent severe complications.
Usher Syndrome	Various genes involved in hearing and vision	A group of genetic disorders characterized by hearing loss and progressive vision loss due to retinitis pigmentosa. There are three types of Usher syndrome, each with different levels of severity and age of onset.
Tryptophan Hydroxylase Deficiency	TPH1 or TPH2	Affects serotonin production, leading to neurological and psychiatric symptoms, including irritability, anxiety, and depression.
Tyrosinemia Type II	TAT	Prevents the breakdown of tyrosine, an amino acid, leading to eye and skin problems, and intellectual disability in severe cases.
Tyrosinemia Type III	HPD	A rare metabolic disorder that affects the breakdown of tyrosine, an amino acid, leading to mild intellectual disability and intermittent ataxia (loss of coordination).
Usher Syndrome Type 1	MYO7A, USH1C, CDH23, PCDH15, or SANS	Characterized by profound congenital deafness, balance problems, and progressive vision loss due to retinitis pigmentosa.
Usher Syndrome Type 2	USH2A, GPR98, or DFNB31	Characterized by moderate to severe congenital hearing loss and progressive vision loss due to retinitis pigmentosa.
Usher Syndrome Type 3	CLRN1	Characterized by progressive hearing loss, balance problems, and variable vision loss due to retinitis pigmentosa.
VACTERL Association	Unknown	A non-random association of birth defects affecting the vertebrae, anus, heart, trachea, esophagus, kidneys, and limbs.
Vanishing White Matter Disease (VWM)	EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5	A progressive neurological disorder that affects the white matter of the brain, causing a variety of symptoms, including ataxia, spasticity, and cognitive decline.
Variegate Porphyria	PROTO	A rare metabolic disorder that affects the production of heme, a component of hemoglobin, leading to abdominal pain, skin problems, and neurological symptoms.
Velocardiofacial Syndrome (VCFS)	Deletion of part of chromosome 22	A genetic disorder characterized by heart defects, cleft palate, distinctive facial features, and learning difficulties.
Von Gierke Disease (GSD I)	G6PC	A glycogen storage disorder that affects the liver‘s ability to break down glycogen, leading to low blood sugar (hypoglycemia), liver enlargement, and other complications.
Von Hippel-Lindau (VHL) Disease	VHL	A genetic disorder that causes the growth of tumors and cysts in various organs, including the kidneys, pancreas, adrenal glands, and central nervous system.
Waldenström Macroglobulinemia	MYD88	A type of non-Hodgkin lymphoma characterized by the overproduction of IgM antibodies.
Walker-Warburg Syndrome	POMT1, POMT2, FKTN, FKRP, LARGE, or POMGNT1	A severe form of congenital muscular dystrophy affecting the muscles, brain, and eyes, often leading to death in infancy or early childhood.
Warburg Micro Syndrome	RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20	A rare genetic disorder characterized by microcephaly (small head), microphthalmia (small eyes), intellectual disability, and other developmental problems.
Weill-Marchesani Syndrome	FBN1 or ADAMTSL4	A rare genetic disorder that affects connective tissue, causing short stature, short fingers and toes, lens dislocation (in the eye), and other complications.
Wiskott-Aldrich Syndrome	WAS	Causes immunodeficiency, eczema, and thrombocytopenia (low platelet count), leading to recurrent infections, bleeding problems, and autoimmune disorders.
Wolcott-Rallison Syndrome	EIF2AK3	Causes neonatal diabetes mellitus, liver dysfunction, skeletal abnormalities, and growth retardation.
Wolfram Syndrome	WFS1	Causes diabetes mellitus, optic atrophy (vision loss), deafness, and diabetes insipidus (excessive thirst and urination).
X-Linked Agammaglobulinemia (XLA)	BTK	Affects the immune system, preventing the production of antibodies, leading to recurrent infections.
X-Linked Chronic Granulomatous Disease (X-CGD)	CYBB	A primary immunodeficiency disorder that impairs the immune system‘s ability to kill certain types of bacteria and fungi.
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)	EDA	Affects the development of hair, teeth, sweat glands, and nails, causing sparse hair, missing or malformed teeth, and an inability to sweat normally.
X-Linked Ichthyosis	STS	Causes dry, scaly skin due to a deficiency of steroid sulfatase, an enzyme involved in the breakdown of cholesterol sulfate.
X-Linked Lymphoproliferative Disease (XLP)	SH2D1A or XIAP	Causes an extreme immune reaction to Epstein-Barr virus (EBV), leading to a variety of complications, including severe infections, lymphoma, and other cancers.
X-Linked Myotubular Myopathy	MTM1	Primarily affects males, causing severe muscle weakness and hypotonia (low muscle tone) from birth.
X-Linked Severe Combined Immunodeficiency (X-SCID)	IL2RG	A severe combined immunodeficiency (SCID) disorder that primarily affects males, causing a lack of T cells and natural killer (NK) cells, leading to severe immune system dysfunction.
Yellow Nail Syndrome	FOXC2	Causes yellowing and thickening of the nails, lymphedema (swelling due to fluid buildup), and respiratory problems.
Zellweger Spectrum Disorder	Various genes involved in peroxisome function	Affects the formation and function of peroxisomes, organelles that break down fatty acids and toxic substances, leading to a range of symptoms, including liver and kidney problems, developmental delays, and neurological abnormalities.
1p36 Deletion Syndrome	Deletion of a region on the short arm of chromosome 1	Causes a wide range of developmental problems and medical conditions, including intellectual disability, seizures, heart defects, and vision problems.
22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)	Deletion of part of chromosome 22	Causes a variety of developmental problems, including heart defects, immune system deficiencies, cleft palate, learning difficulties, and psychiatric disorders.
3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)	MCCC1 or MCCC2	Prevents the breakdown of the amino acid leucine, leading to a buildup of toxic substances in the body and causing neurological problems, seizures, and other complications.
4p- Syndrome (Wolf-Hirschhorn Syndrome)	Deletion of part of chromosome 4	Causes distinctive facial features (a "Greek warrior helmet" appearance), intellectual disability, seizures, and other developmental problems.
5p- Syndrome (Cri du Chat Syndrome)	Deletion of part of chromosome 5	Causes a high-pitched cry in infants, intellectual disability, microcephaly (small head), and distinctive facial features.
3-Methylglutaconic Aciduria	Various genes, including AUH, OPA3, and TMEM70	A group of metabolic disorders that cause a buildup of 3-methylglutaconic acid in the body, leading to a variety of symptoms, including developmental delays, neurological problems, and muscle weakness.
4p- Syndrome (Wolf-Hirschhorn Syndrome)	Deletion of part of chromosome 4	Causes distinctive facial features (a "Greek warrior helmet" appearance), intellectual disability, seizures, and other developmental problems.
Aarskog Syndrome	FGD1	Primarily affects males, causing short stature, distinctive facial features, skeletal abnormalities, and genital abnormalities.
Abeta-Lipoproteinemia	MTTP	Prevents the body from absorbing fats and fat-soluble vitamins, leading to malnutrition, neurological problems, and other complications.
Acanthocheilonemiasis	Unknown	A parasitic infection caused by the roundworm Acanthocheilonema perstans, leading to skin rash, itching, and other symptoms.
Achard-Thiers Syndrome	Unknown	Causes diabetes mellitus, hypertension (high blood pressure), and other endocrine problems.
Acrodermatitis Enteropathica	SLC39A4	Causes a zinc deficiency, leading to skin rash, hair loss, diarrhea, and impaired immune function.
Acute Hepatic Porphyria (AHP)	ALAD, HMBS, or PPOX	A group of metabolic disorders that affect the production of heme (a component of hemoglobin), leading to abdominal pain, neurological problems, and psychiatric symptoms.
Acute Intermittent Porphyria (AIP)	HMBS	A type of porphyria that causes abdominal pain, neurological problems, and psychiatric symptoms.
Adenomatous Polyposis Coli (APC)	APC	Causes the development of polyps (growths) in the colon and rectum, leading to a high risk of colorectal cancer.
Adrenal Insufficiency (Addison‘s Disease)	Unknown, but may be autoimmune	Causes the adrenal glands to produce insufficient amounts of cortisol and aldosterone (hormones essential for life), leading to fatigue, weakness, low blood pressure, and other symptoms.
Adrenoleukodystrophy (ALD)	ABCD1	Affects the nervous system and adrenal glands, causing a range of symptoms, including behavioral problems, vision loss, and eventually, loss of motor function and cognitive abilities.
Alagille Syndrome	JAG1 or NOTCH2	Affects multiple organ systems, primarily the liver, heart, and skeletal system, causing jaundice, heart defects, and distinctive facial features.
Alkaptonuria (AKU)	HGD	Causes a buildup of homogentisic acid in the body, leading to darkening of the urine, arthritis, and other complications.
Alport Syndrome	COL4A3, COL4A4, or COL4A5	Affects the kidneys, ears, and eyes, causing kidney disease, hearing loss, and vision problems.
Tricho-Dento-Osseous Syndrome (TDO)	DLX3	Affects the development of hair, teeth, and bones, causing brittle hair, abnormally shaped teeth, and increased bone density.
Trifunctional Protein Deficiency	HADHA or HADHB	Affects the breakdown of fatty acids, leading to muscle weakness, cardiomyopathy (heart muscle disease), and hypoglycemia (low blood sugar).
Triple A Syndrome	AAAS	Affects the adrenal glands, autonomic nervous system, and achalasia (difficulty swallowing), causing a variety of symptoms, including alacrima (absence of tears), adrenal insufficiency, and esophageal problems.
Tuberous Sclerosis Complex (TSC)	TSC1 or TSC2	Causes the growth of noncancerous tumors in various organs, including the brain, kidneys, heart, lungs, and skin.
Tyrosinemia Type I	FAH	Prevents the breakdown of tyrosine (an amino acid), leading to liver and kidney damage.
Usher Syndrome	Various genes involved in hearing and vision	Causes hearing loss and progressive vision loss due to retinitis pigmentosa.
VACTERL Association	Unknown	A non-random association of birth defects affecting the vertebrae, anus, heart, trachea, esophagus, kidneys, and limbs.
Van der Woude Syndrome	IRF6	Causes cleft lip and/or palate, lip pits (small depressions in the lower lip), and sometimes, missing teeth.
VLCAD Deficiency	ACADVL	Prevents the breakdown of very long-chain fatty acids, which can lead to a life-threatening metabolic crisis during periods of fasting or illness.
Von Hippel-Lindau (VHL) Disease	VHL	Causes the growth of tumors and cysts in various organs, including the kidneys, pancreas, adrenal glands, and central nervous system.
Waardenburg Syndrome	PAX3, MITF, SOX10, EDN3, or EDNRB	Causes hearing loss, changes in pigmentation (such as white patches of hair or different-colored eyes), and distinctive facial features.
Walker-Warburg Syndrome	POMT1, POMT2, FKTN, FKRP, LARGE, or POMGNT1	Causes a severe form of congenital muscular dystrophy, affecting the muscles, brain, and eyes, often leading to death in infancy or early childhood.
Weill-Marchesani Syndrome	FBN1 or ADAMTSL4	Affects connective tissue, causing short stature, short fingers and toes, lens dislocation (in the eye), and other complications.
Wiskott-Aldrich Syndrome	WAS	Causes immunodeficiency, eczema, and thrombocytopenia (low platelet count), leading to recurrent infections, bleeding problems, and autoimmune disorders.
Wolcott-Rallison Syndrome	EIF2AK3	Causes neonatal diabetes mellitus, liver dysfunction, skeletal abnormalities, and growth retardation.
Wolfram Syndrome	WFS1	Causes diabetes mellitus, optic atrophy (vision loss), deafness, and diabetes insipidus (excessive thirst and urination).
Xeroderma Pigmentosum (XP)	Various genes involved in DNA repair	Causes extreme sensitivity to ultraviolet (UV) light, leading to skin cancers and other skin problems.
X-Linked Agammaglobulinemia (XLA)	BTK	Affects the immune system, preventing the production of antibodies, leading to recurrent infections.
X-Linked Chronic Granulomatous Disease (X-CGD)	CYBB	A primary immunodeficiency disorder that impairs the immune system‘s ability to kill certain types of bacteria and fungi.
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)	EDA	Affects the development of hair, teeth, sweat glands, and nails, causing sparse hair, missing or malformed teeth, and an inability to sweat normally.
X-Linked Ichthyosis	STS	Causes dry, scaly skin due to a deficiency of steroid sulfatase, an enzyme involved in the breakdown of cholesterol sulfate.
X-Linked Lymphoproliferative Disease (XLP)	SH2D1A or XIAP	Causes an extreme immune reaction to Epstein-Barr virus (EBV), leading to a variety of complications, including severe infections, lymphoma, and other cancers.
X-Linked Myotubular Myopathy	MTM1	Primarily affects males, causing severe muscle weakness and hypotonia (low muscle tone) from birth.
X-Linked Severe Combined Immunodeficiency (X-SCID)	IL2RG	A severe combined immunodeficiency (SCID) disorder that primarily affects males, causing a lack of T cells and natural killer (NK) cells, leading to severe immune system dysfunction.
Yellow Nail Syndrome	FOXC2	Causes yellowing and thickening of the nails, lymphedema (swelling due to fluid buildup), and respiratory problems.
Zellweger Syndrome	PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, or PEX26	A group of genetic disorders that impair the function of peroxisomes, organelles essential for various metabolic processes. This leads to a range of symptoms, including liver and kidney dysfunction, neurological problems, and developmental delays.
1p36 Deletion Syndrome	Deletion of a region on the short arm of chromosome 1	A chromosomal disorder characterized by a wide range of developmental problems and medical conditions, including intellectual disability, seizures, heart defects, and vision problems. The severity of the condition varies depending on the size and location of the deleted region.
22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)	Deletion of part of chromosome 22	A genetic disorder characterized by a variety of developmental problems, including heart defects, immune system deficiencies, cleft palate, learning difficulties, and psychiatric disorders.
3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)	MCCC1 or MCCC2	A metabolic disorder that prevents the body from processing certain proteins and fats properly, leading to a buildup of harmful substances in the blood and tissues. Symptoms can include vomiting, lethargy, seizures, and developmental delays.
4p- Syndrome (Wolf-Hirschhorn Syndrome)	Deletion of part of chromosome 4	A genetic disorder characterized by distinctive facial features (a "Greek warrior helmet" appearance), intellectual disability, seizures, and other developmental problems.
5p- Syndrome (Cri du Chat Syndrome)	Deletion of part of chromosome 5	A chromosomal disorder characterized by a high-pitched cry in infants, intellectual disability, microcephaly (small head), and distinctive facial features.
Aarskog-Scott Syndrome	FGD1	A genetic disorder primarily affecting males, causing short stature, distinctive facial features, skeletal abnormalities, and genital abnormalities.
Abetalipoproteinemia	MTTP	A rare inherited disorder that impairs the absorption of fats and fat-soluble vitamins, leading to malnutrition, neurological problems, and other complications.
Acanthocytosis	VPS13A	A group of rare disorders characterized by the presence of acanthocytes (abnormal red blood cells with spiky projections), which can lead to neurological problems, anemia, and other complications.
Achalasia	Unknown, but may involve the nervous system	A disorder of the esophagus (the tube that carries food from the throat to the stomach) that makes it difficult for food and liquid to pass into the stomach.
Achondrogenesis Type 1A	TRIP11	A severe skeletal dysplasia that affects cartilage and bone development, leading to shortened limbs, underdeveloped lungs, and often, stillbirth or early death.
Tyrosinemia Type II	TAT	Prevents the breakdown of tyrosine, an amino acid, leading to eye and skin problems, and intellectual disability in severe cases.
Tyrosinemia Type III	HPD	A rare metabolic disorder that affects the breakdown of tyrosine, an amino acid, leading to mild intellectual disability and intermittent ataxia (loss of coordination).
Usher Syndrome Type 1	MYO7A, USH1C, CDH23, PCDH15, or SANS	Characterized by profound congenital deafness, balance problems, and progressive vision loss due to retinitis pigmentosa.
Usher Syndrome Type 2	USH2A, GPR98, or DFNB31	Characterized by moderate to severe congenital hearing loss and progressive vision loss due to retinitis pigmentosa.
Usher Syndrome Type 3	CLRN1	Characterized by progressive hearing loss, balance problems, and variable vision loss due to retinitis pigmentosa.
VACTERL Association	Unknown	A non-random association of birth defects affecting the vertebrae, anus, heart, trachea, esophagus, kidneys, and limbs.
Vanishing White Matter Disease (VWM)	EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5	A progressive neurological disorder that affects the white matter of the brain, causing a variety of symptoms, including ataxia, spasticity, and cognitive decline.
Variegate Porphyria	PROTO	A rare metabolic disorder that affects the production of heme, a component of hemoglobin, leading to abdominal pain, skin problems, and neurological symptoms.
Velocardiofacial Syndrome (VCFS)	Deletion of part of chromosome 22	A genetic disorder characterized by heart defects, cleft palate, distinctive facial features, and learning difficulties.
Von Gierke Disease (GSD I)	G6PC	A glycogen storage disorder that affects the liver‘s ability to break down glycogen, leading to low blood sugar (hypoglycemia), liver enlargement, and other complications.
Von Hippel-Lindau (VHL) Disease	VHL	A genetic disorder that causes the growth of tumors and cysts in various organs, including the kidneys, pancreas, adrenal glands, and central nervous system.
Waldenström Macroglobulinemia	MYD88	A type of non-Hodgkin lymphoma characterized by the overproduction of IgM antibodies.
Walker-Warburg Syndrome	POMT1, POMT2, FKTN, FKRP, LARGE, or POMGNT1	A severe form of congenital muscular dystrophy affecting the muscles, brain, and eyes, often leading to death in infancy or early childhood.
Warburg Micro Syndrome	RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20	A rare genetic disorder characterized by microcephaly (small head), microphthalmia (small eyes), intellectual disability, and other developmental problems.
Weill-Marchesani Syndrome	FBN1 or ADAMTSL4	A rare genetic disorder that affects connective tissue, causing short stature, short fingers and toes, lens dislocation (in the eye), and other complications.
Werner Syndrome	WRN	Causes premature aging, including graying hair, wrinkles, cataracts, and an increased risk of age-related diseases such as cancer and heart disease.
Wiskott-Aldrich Syndrome	WAS	An X-linked recessive disorder characterized by immunodeficiency, eczema, and thrombocytopenia (low platelet count), leading to increased susceptibility to infections, bleeding problems, and autoimmune disorders.
Wolcott-Rallison Syndrome	EIF2AK3	A rare autosomal recessive disorder characterized by permanent neonatal or early-infancy diabetes, multiple epiphyseal dysplasia, liver dysfunction, and other multi-systemic features.
Wolfram Syndrome	WFS1	A rare autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD).
X-Linked Agammaglobulinemia (XLA)	BTK	An X-linked immunodeficiency disorder characterized by the absence of mature B cells, leading to a lack of antibody production and recurrent infections.
X-Linked Chronic Granulomatous Disease (X-CGD)	CYBB	A primary immunodeficiency disorder that impairs the immune system‘s ability to kill certain types of bacteria and fungi, resulting in recurrent and severe infections.
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)	EDA	A genetic disorder characterized by the abnormal development of ectodermal tissues, resulting in sparse hair, missing or malformed teeth, and an inability to sweat normally.
X-Linked Ichthyosis	STS	A genetic skin disorder caused by a deficiency of the steroid sulfatase enzyme, leading to dry, scaly skin.
X-Linked Lymphoproliferative Disease (XLP)	SH2D1A or XIAP	A rare genetic disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV), leading to a high risk of developing severe complications, including hemophagocytic lymphohistiocytosis (HLH), lymphoma, and other cancers.
X-Linked Myotubular Myopathy	MTM1	A severe congenital myopathy primarily affecting males, characterized by profound muscle weakness and hypotonia (low muscle tone).
X-Linked Severe Combined Immunodeficiency (X-SCID)	IL2RG	A severe primary immunodeficiency disorder characterized by the absence of T cells and natural killer (NK) cells, leading to a severely compromised immune system and susceptibility to infections.
Yellow Nail Syndrome	FOXC2	A rare disorder characterized by yellowing and thickening of the nails, lymphedema (swelling due to fluid buildup), and respiratory problems.
Alström Syndrome	ALMS1	A rare genetic disorder characterized by childhood blindness, hearing loss, obesity, type 2 diabetes, and other multi-systemic problems.
Amyloidosis	Various genes, often related to protein misfolding	A group of diseases caused by the buildup of amyloid proteins in organs and tissues, leading to a variety of symptoms depending on the affected organs.
Anderson-Fabry Disease	GLA	A lysosomal storage disorder caused by a deficiency of alpha-galactosidase A, resulting in the buildup of a fatty substance called globotriaosylceramide in cells, leading to pain, kidney problems, and heart disease.
Ankylosing Spondylitis	HLA-B27 (and other genes)	A type of arthritis that mainly affects the spine, causing inflammation and pain.
Apert Syndrome	FGFR2	A genetic disorder characterized by the premature fusion of skull bones (craniosynostosis), leading to a misshapen head and face, as well as other skeletal abnormalities.
Arthrogryposis Multiplex Congenita (AMC)	Multiple genes, often affecting muscle or nerve development	A condition characterized by multiple joint contractures (stiffness) present at birth, leading to decreased range of motion and other complications. The exact cause of AMC is often unknown, but it can be caused by genetic mutations, maternal illness during pregnancy, or other factors.
Autoimmune Lymphoproliferative Syndrome (ALPS)	FAS, FASLG, or CASP10	A rare genetic disorder of the immune system characterized by an abnormal accumulation of lymphocytes (white blood cells), leading to enlarged lymph nodes, autoimmune disorders, and an increased risk of lymphoma.
Axenfeld-Rieger Syndrome	PITX2 or FOXC1	A group of disorders that affect the development of the eyes, teeth, and abdominal wall. They are characterized by specific eye abnormalities, dental issues, and umbilical abnormalities.
Bardet-Biedl Syndrome	Various genes, including BBS1-BBS18 and TTC8	A rare genetic disorder that affects many parts of the body. Signs and symptoms include vision loss, obesity, extra fingers or toes (polydactyly), kidney problems, and learning disabilities.
Barth Syndrome	TAZ	A rare X-linked genetic disorder that primarily affects males, causing cardiomyopathy (weakening of the heart muscle), neutropenia (low white blood cell count), growth delays, and other symptoms.
Beckwith-Wiedemann Syndrome (BWS)	Imprinting defect on chromosome 11 or CDKN1C mutation	Characterized by overgrowth, macroglossia (large tongue), abdominal wall defects, and an increased risk of childhood tumors.
Behçet‘s Disease	Unknown, but may be related to autoimmune dysregulation	A chronic inflammatory disease that can cause inflammation in blood vessels throughout the body, leading to mouth sores, genital sores, skin lesions, and eye inflammation.

Whole Exome Sequencing with Mitochondrial Sequencing

Genomepatri™

Matchmygenome (Comprehensive COUPLE carrier screening on Whole Exome)

Comprehensive List of Genetic and Rare Diseases

Rare Disease

Gene(s) Involved

Impact