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 ...