congenital muscular dystrophy-dystroglycanopathy type A14

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.

Signs and symptoms

Elevated circulating creatine kinase activity
Muscle weakness
Intellectual disability
Seizure
Microcephaly
Hypoglycosylation of alpha-dystroglycan
Global developmental delay
Muscular dystrophy
Cerebellar hypoplasia
Cataract

Also known as: MDDGA14; Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14