ZFIN Human Disease: developmental and epileptic encephalopathy 33

OBO ID: DOID:0080463

Term Name:	developmental and epileptic encephalopathy 33		Search Ontology:
Synonyms:	DEE33 early infantile epileptic encephalopathy 33
Definition:	A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/23033978
References:	OMIM:616409
Ontology:	Human Disease ( DOID:0080463 )

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 33 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EEF1A2	eef1a2	Developmental and epileptic encephalopathy 33	616409

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None