congenital muscular dystrophy-dystroglycanopathy type A12

Term ID

DOID:0111235

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
• MDDGA12
• Walker-Warburg syndrome or muscle-eye-brain disease POMK-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. https://www.ncbi.nlm.nih.gov/pubmed/23519211

References

• OMIM:615249

Ontology

Human Disease   ( DOID:0111235 )