DISEASES

Disease-gene associations mined from literature

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 ...