OBO ID: DOID:0050560
Term Name: Walker-Warburg syndrome Search Ontology:
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)
OTHER Walker-Warburg syndrome PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (4)