congenital muscular dystrophy-dystroglycanopathy type A2

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.

Signs and symptoms

Elevated circulating creatine kinase activity
Type II lissencephaly
Cataract
Hydrocephalus
Muscular dystrophy
Increased variability in muscle fiber diameter
Buphthalmos
Hypermetropia
Hypoplasia of the brainstem
Seizure

Also known as: MDDGA2; Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2