DISEASES

Disease-gene associations mined from literature

Human genes for congenital muscular dystrophy-dystroglycanopathy type A10

Congenital muscular dystrophy-dystroglycanopathy type A10 [DOID:0111239]

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.

Synonyms:  congenital muscular dystrophy-dystroglycanopathy type A10,  DOID:0111239,  congenital muscular dystrophydystroglycanopathy type A10,  MDDGA10,  Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related ...