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Walker-Warburg syndrome

Go to external page 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 ]

Term info

Label

Walker-Warburg syndrome

Synonyms
  • HARD syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
database cross reference
Subsets

DO_FlyBase_slim

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050560