congenital muscular dystrophy-dystroglycanopathy type A1

info · Genetic

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.

Signs and symptoms

Corneal opacity
Elevated circulating creatine kinase activity
Seizure
Absent speech
Mask-like facies
Global developmental delay
Microphthalmia
Hypoplasia of the brainstem
Agyria
Type II lissencephaly

Also known as: MDDGA1; Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1