DISEASES

Disease-gene associations mined from literature

Human genes for congenital muscular dystrophy-dystroglycanopathy A14

Congenital muscular dystrophy-dystroglycanopathy A14 [DOID:0111233]

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.

Synonyms:  congenital muscular dystrophy-dystroglycanopathy A14,  congenital muscular dystrophydystroglycanopathy A14,  DOID:0111233,  congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14,  MDDGA14 ...