Walker-Warburg syndrome

Term ID

DOID:0050560

Synonyms

• cerebroocular dysplasia-muscular dystrophy syndrome
• HARD syndrome

Definition

A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome

References

• GARD:2599
• MESH:D058494

Ontology

Human Disease   ( DOID:0050560 )