LOC727896
loc727896: Understanding a Rare Genetic Disorder
Description
LOC727896 is a rare genetic disorder caused by mutations in the gene of the same name. This gene is responsible for producing a protein that plays a crucial role in the normal development and function of the brain, particularly in the cerebellum. Mutations in LOC727896 lead to disruptions in the production or function of this protein, resulting in various neurological and developmental impairments.
Associated Diseases
Individuals with LOC727896 mutations have been identified with a spectrum of neurological disorders, including:
- Intellectual disability: Difficulty with learning, problem-solving, and understanding
- Autism spectrum disorder (ASD): Challenges with social interactions, communication, and repetitive behaviors
- Cerebellar hypoplasia: Underdevelopment of the cerebellum, affecting balance, coordination, and motor skills
- Congenital microcephaly: Unusually small head size at birth
- Epilepsy: Recurrent seizures
- Ophthalmological abnormalities: Eye movement problems, strabismus, and vision impairments
- Delayed speech and language development
- Hypotonia: Decreased muscle tone
Did you Know ?
LOC727896 mutations are estimated to affect approximately 1 in 100,000 individuals worldwide, making it an extremely rare disorder.
