muscular dystrophy-dystroglycanopathy type B14

info · Genetic

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

Signs and symptoms

Elevated circulating creatine kinase activity
Muscle weakness
Intellectual disability
Strabismus
Decreased fetal movement
Poor head control
Seizure
Hypotonia
Myopathic facies
Cerebellar hypoplasia

Also known as: MDDGB14; congenital muscular dystrophy GMPPB-related