DISEASES

Disease-gene associations mined from literature

Human genes for congenital muscular dystrophy-dystroglycanopathy type A12

Congenital muscular dystrophy-dystroglycanopathy type A12 [DOID:0111235]

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.

Synonyms:  congenital muscular dystrophy-dystroglycanopathy type A12,  DOID:0111235,  congenital muscular dystrophydystroglycanopathy type A12,  MDDGA12,  Walker-Warburg syndrome or muscle-eye-brain disease POMK-related ...