Conditions / Genetic
muscular dystrophy-dystroglycanopathy type B3
info · Genetic
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1.
Signs and symptoms
- Muscular dystrophy
- Microcephaly
- Elevated circulating creatine kinase activity
- Strabismus
- Cerebellar hypoplasia
- Cerebellar cyst
- Motor delay
- Hypoplasia of the pons
- Optic atrophy
- Ventriculomegaly
Also known as: MDDGB3; congenital muscular dystrophy POMGNT1-related