ZFIN Human Disease: developmental and epileptic encephalopathy 49

OBO ID: DOID:0080441

Term Name:	developmental and epileptic encephalopathy 49		Search Ontology:
Synonyms:	DEE49 early infantile epileptic encephalopathy 49
Definition:	A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/27866705
References:	OMIM:617281
Ontology:	Human Disease ( DOID:0080441 )

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 49 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DENND5A	dennd5a	Developmental and epileptic encephalopathy 49	617281

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None