ZFIN Human Disease: Walker-Warburg syndrome

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:	GARD:2599 MESH:D058494
Ontology:	Human Disease ( DOID:0050560 )

Relationships

is a type of:	autosomal recessive disease congenital muscular dystrophy autosomal recessive disease congenital muscular dystrophy Show first 5 Terms

OTHER Walker-Warburg syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
WT + MO1-b4gat1	standard conditions	Buysse et al., 2013
WT + MO1-crppa	standard conditions	Roscioli et al., 2012
WT + MO1-rxylt1	standard conditions	Praissman et al., 2016
WT + MO2-crppa	standard conditions	Roscioli et al., 2012

PHENOTYPE No data available

CITATIONS (4)