congenital muscular dystrophy-dystroglycanopathy type A11

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.

Signs and symptoms

Elevated circulating creatine kinase activity
Global developmental delay
Intellectual disability
Severe muscular hypotonia
Type II lissencephaly
Hydrocephalus
Muscular dystrophy
Leukoencephalopathy
Cerebellar cyst
Hypoplasia of the pons

Also known as: MDDGA11; Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11