Conditions / Genetic
congenital muscular dystrophy-dystroglycanopathy type A10
info · Genetic
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
Signs and symptoms
- Type II lissencephaly
- Cerebellar dysplasia
- Retinal dysplasia
- Gonadal dysgenesis
- Neural tube defect
Also known as: MDDGA10; Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10