congenital muscular dystrophy-dystroglycanopathy type A9

Term ID

DOID:0111232

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
• MDDGA9
• Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/24052401

References

• OMIM:616538

Ontology

Human Disease   ( DOID:0111232 )