congenital muscular dystrophy-dystroglycanopathy type A10

Term ID

DOID:0111239

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
• MDDGA10
• Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related

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

References

• OMIM:615041

Ontology

Human Disease   ( DOID:0111239 )