congenital muscular dystrophy-dystroglycanopathy type A13

Term ID

DOID:0111238

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
• MDDGA13
• Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
• Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. https://www.ncbi.nlm.nih.gov/pubmed/23359570

References

• OMIM:615287

Ontology

Human Disease   ( DOID:0111238 )