congenital muscular dystrophy-dystroglycanopathy type A5

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.

Signs and symptoms

Poor head control
Elevated circulating creatine kinase activity
Corneal opacity
Hypoplasia of the brainstem
Agenesis of corpus callosum
Agyria
Hypoplasia of the pons
Hydrocephalus
Dandy-Walker malformation
Ventriculomegaly

Also known as: MDDGA5; Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5