congenital muscular dystrophy-dystroglycanopathy type A9

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.

Signs and symptoms

Poor head control
Elevated circulating creatine kinase activity
Generalized hypotonia
Ventriculomegaly
Retinal dystrophy
Cerebellar vermis hypoplasia
Absent speech
Hypoplasia of the corpus callosum
Global developmental delay
Polymicrogyria

Also known as: MDDGA9; Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9