Conditions / Genetic
muscular dystrophy-dystroglycanopathy type B2
info · Genetic
A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3.
Signs and symptoms
- Inability to walk
- Cerebral cortical atrophy
- Hypotonia
- Severe intellectual disability
- Cerebellar vermis hypoplasia
- Generalized muscle weakness
- Microcephaly
- Muscular dystrophy
- Elevated circulating creatine kinase activity
- Facial palsy
Also known as: MDDGB2; congenital muscular dystrophy POMT2-related