ZFIN Human Disease: developmental and epileptic encephalopathy 83

OBO ID: DOID:0112218

Term Name:	developmental and epileptic encephalopathy 83		Search Ontology:
Synonyms:	DEE83 early infantile epileptic encephalopathy 83
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. https://pubmed.ncbi.nlm.nih.gov/31820119/
References:	OMIM:618744
Ontology:	Human Disease ( DOID:0112218 )

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 83 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
UGP2	ugp2b ugp2a	Developmental and epileptic encephalopathy 83	618744

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None