ZFIN Human Disease: developmental and epileptic encephalopathy 28

OBO ID: DOID:0080452

Term Name:	developmental and epileptic encephalopathy 28		Search Ontology:
Synonyms:	DEE28 early infantile epileptic encephalopathy 28
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. (2)
References:	OMIM:616211
Ontology:	Human Disease ( DOID:0080452 )

Relationships

is a type of:	autosomal recessive disease developmental and epileptic encephalopathy autosomal recessive disease developmental and epileptic encephalopathy Show first 5 Terms

OTHER developmental and epileptic encephalopathy 28 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
WWOX	wwox	Developmental and epileptic encephalopathy 28	616211

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None