congenital muscular dystrophy-dystroglycanopathy type A12

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.

Signs and symptoms

Type II lissencephaly
Hydrocephalus
Muscular dystrophy
Severe global developmental delay
Tonic seizure
Retinal degeneration
Poor speech
Poor head control
Elevated circulating creatine kinase activity
Flexion contracture

Also known as: MDDGA12; Walker-Warburg syndrome or muscle-eye-brain disease POMK-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12