congenital muscular dystrophy-dystroglycanopathy type A8

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.

Signs and symptoms

Type II lissencephaly
Cerebellar hypoplasia
Muscular dystrophy
Ventriculomegaly
Hypotonia
Global developmental delay
Hydrocephalus
Retinal dysplasia
Glaucoma
Microphthalmia

Also known as: MDDGA8; Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8