ZFIN Human Disease: developmental and epileptic encephalopathy 60

OBO ID: DOID:0080432

Term Name:	developmental and epileptic encephalopathy 60		Search Ontology:
Synonyms:	DEE60 early infantile epileptic encephalopathy 60
Definition:	A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. https://www.ncbi.nlm.nih.gov/pubmed/29394991
References:	OMIM:617929
Ontology:	Human Disease ( DOID:0080432 )

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 60 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CNPY3	cnpy3	Developmental and epileptic encephalopathy 60	617929

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None