congenital muscular dystrophy-dystroglycanopathy type A7

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.

Signs and symptoms

Elevated circulating creatine kinase activity
Type II lissencephaly
Hydrocephalus
Cerebellar hypoplasia
Cataract
Hypoplasia of the brainstem
Profound intellectual disability
Hypotonia
Generalized hypotonia
Agyria

Also known as: MDDGA7; Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7