ZFIN Human Disease: developmental and epileptic encephalopathy 21

OBO ID: DOID:0080443

Term Name:	developmental and epileptic encephalopathy 21		Search Ontology:
Synonyms:	DEE21 early infantile epileptic encephalopathy 21
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. (2)
References:	OMIM:615833
Ontology:	Human Disease ( DOID:0080443 )

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 21 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NECAP1	necap1	Developmental and epileptic encephalopathy 21	615833

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None