ZFIN Human Disease: developmental and epileptic encephalopathy 89

OBO ID: DOID:0112223

Term Name:	developmental and epileptic encephalopathy 89		Search Ontology:
Synonyms:	DEE89 early infantile epileptic encephalopathy 89
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. https://pubmed.ncbi.nlm.nih.gov/32282878/
References:	OMIM:619124
Ontology:	Human Disease ( DOID:0112223 )

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 89 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GAD1	gad1a gad1b	Developmental and epileptic encephalopathy 89	619124

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None