Human genes for congenital muscular dystrophy-dystroglycanopathy type A5
Congenital muscular dystrophy-dystroglycanopathy type A5 [DOID:0111241]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
Synonyms: congenital muscular dystrophy-dystroglycanopathy type A5, congenital muscular dystrophydystroglycanopathy type A5, DOID:0111241, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5, MDDGA5 ...