Human genes for congenital muscular dystrophy-dystroglycanopathy type A1
Congenital muscular dystrophy-dystroglycanopathy type A1 [DOID:0111237]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
Synonyms: congenital muscular dystrophy-dystroglycanopathy type A1, DOID:0111237, congenital muscular dystrophydystroglycanopathy type A1, MDDGA1, Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related ...