congenital muscular dystrophy-dystroglycanopathy type A1

Term ID

DOID:0111237

Synonyms

• congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
• MDDGA1
• Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. https://www.ncbi.nlm.nih.gov/pubmed/12369018

References

• OMIM:236670

Ontology

Human Disease   ( DOID:0111237 )