Conditions / Genetic
congenital muscular dystrophy-dystroglycanopathy type A6
info · Genetic
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Generalized hypotonia
- Aplasia of the inferior half of the cerebellar vermis
- Global developmental delay
- Areflexia
- Flexion contracture
- Severe muscular hypotonia
- Pigmentary retinopathy
- Increased endomysial connective tissue
- Dilated third ventricle
Also known as: MDDGA6; Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6