ZFIN Human Disease: developmental and epileptic encephalopathy 38

OBO ID: DOID:0080417

Term Name:	developmental and epileptic encephalopathy 38		Search Ontology:
Synonyms:	DEE38 early infantile epileptic encephalopathy 38
Definition:	A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. (3)
References:	OMIM:617020
Ontology:	Human Disease ( DOID:0080417 )

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 38 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ARV1	arv1	Developmental and epileptic encephalopathy 38	617020

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None