Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0050560 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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