ZFIN Human Disease: developmental and epileptic encephalopathy 25

OBO ID: DOID:0080453

Term Name:	developmental and epileptic encephalopathy 25		Search Ontology:
Synonyms:	DEE25 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta early infantile epileptic encephalopathy 25
Definition:	A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (2)
References:	GARD:12901 OMIM:615905
Ontology:	Human Disease ( DOID:0080453 )

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 25 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC13A5	slc13a5a slc13a5b	Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta	615905

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None