LOC100129940
Loc 100129940: Exploring a Rare Genetic Disorder
Description
Loc 100129940 is a rare genetic disorder caused by a mutation in the KAT6B gene. This gene plays a crucial role in regulating gene expression, which is essential for normal development and functioning of the body. Mutations in the KAT6B gene can disrupt this process, leading to a wide range of developmental abnormalities.
Associated Diseases
Loc 100129940 is associated with a spectrum of clinical features, including:
- Intellectual disability: Cognitive impairment ranging from mild to severe
- Autism spectrum disorder: Difficulty with social communication and interactions
- Motor delays: Impaired muscle coordination and movements
- Speech difficulties: Problems with articulation and language development
- Dysmorphic facial features: Unusual facial features such as a prominent forehead, wide-set eyes, and thin lips
- Growth abnormalities: Slow growth and delayed puberty
- Heart defects: Structural abnormalities in the heart
- Kidney problems: Renal dysfunction or kidney failure
Did you Know ?
Loc 100129940 is an extremely rare disorder, affecting approximately 1 in 1 million individuals worldwide.
