congenital muscular dystrophy-dystroglycanopathy type A6

Term ID

DOID:0111242

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
• MDDGA6
• Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. https://www.ncbi.nlm.nih.gov/pubmed/17436019

References

• OMIM:613154

Ontology

Human Disease   ( DOID:0111242 )