ZFIN Human Disease: developmental and epileptic encephalopathy 70

OBO ID: DOID:0112206

Term Name:	developmental and epileptic encephalopathy 70		Search Ontology:
Synonyms:	DEE70 early infantile epileptic encephalopathy 70
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. https://pubmed.ncbi.nlm.nih.gov/30256902/
References:	OMIM:618298
Ontology:	Human Disease ( DOID:0112206 )

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 70 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PHACTR1	phactr1	Developmental and epileptic encephalopathy 70	618298

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None