congenital muscular dystrophy-dystroglycanopathy type A3

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.

Signs and symptoms

Elevated circulating creatine kinase activity
Generalized hypotonia
Short nasal bridge
Hydrocephalus
Global developmental delay
Midface retrusion
Everted lower lip vermilion
Retinal dysplasia
Glaucoma
Micrognathia

Also known as: MDDGA3; Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3