ZFIN Human Disease: developmental and epileptic encephalopathy 67

OBO ID: DOID:0112203

Term Name:	developmental and epileptic encephalopathy 67		Search Ontology:
Synonyms:	DEE67 early infantile epileptic encephalopathy 67
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. https://pubmed.ncbi.nlm.nih.gov/29630738/
References:	OMIM:618141
Ontology:	Human Disease ( DOID:0112203 )

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 67 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CUX2	cux2b cux2a	Developmental and epileptic encephalopathy 67	618141

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None