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Metadata
ID DOID:0111239
Name congenital muscular dystrophy-dystroglycanopathy type A10
Definition A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
https://www.ncbi.nlm.nih.gov/pubmed/23217329
Xrefs

MIM:615041

Synonyms

congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10 [EXACT]

MDDGA10 [EXACT]

Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related [EXACT]

Parent Relationships

is_a congenital muscular dystrophy-dystroglycanopathy type A

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