Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
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Sign InDescription
An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
Mode of Inheritance
- Heterogeneous
- Autosomal recessive inheritance
VARIANTS
32