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 ...