ZFIN Human Disease: developmental and epileptic encephalopathy 43

OBO ID: DOID:0080447

Term Name:	developmental and epileptic encephalopathy 43		Search Ontology:
Synonyms:	DEE43 early infantile epileptic encephalopathy 43
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. (2)
References:	OMIM:617113
Ontology:	Human Disease ( DOID:0080447 )

Relationships

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

OTHER developmental and epileptic encephalopathy 43 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GABRB3	gabrb3	Developmental and epileptic encephalopathy 43	617113

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None