congenital muscular dystrophy-dystroglycanopathy type A13

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.

Signs and symptoms

Seizure
Gray matter heterotopia
Ventriculomegaly
Cerebellar hypoplasia
Type II lissencephaly
Communicating hydrocephalus
Anencephaly
Elevated circulating creatine kinase activity
Opacification of the corneal stroma
Occipital encephalocele

Also known as: MDDGA13; Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related; Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13