ZFIN Human Disease: developmental and epileptic encephalopathy 72

OBO ID: DOID:0112208

Term Name:	developmental and epileptic encephalopathy 72		Search Ontology:
Synonyms:	DEE72 early infantile epileptic encephalopathy 72
Definition:	A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. https://pubmed.ncbi.nlm.nih.gov/30323019/
References:	OMIM:618374
Ontology:	Human Disease ( DOID:0112208 )

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 72 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NEUROD2	neurod2	Developmental and epileptic encephalopathy 72	618374

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None