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Walker-Warburg syndrome

^ http://purl.obolibrary.org/obo/DOID_0050560


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. [ http://purl.obolibrary.org/obo/ECO_0007637 url:https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome ]

Synonyms: HARD syndrome, cerebroocular dysplasia-muscular dystrophy syndrome

Term info

database cross reference
  • GARD:2599
  • MESH:D058494
Subsets

DO_FlyBase_slim

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050560