ZFIN Human Disease: developmental and epileptic encephalopathy 16

OBO ID: DOID:0080449

Term Name:	developmental and epileptic encephalopathy 16		Search Ontology:
Synonyms:	DEE16 early infantile epileptic encephalopathy 16
Definition:	A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. (2)
References:	OMIM:615338 ORDO:352596
Ontology:	Human Disease ( DOID:0080449 )

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 16 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TBC1D24	tbc1d24	Developmental and epileptic encephalopathy 16	615338

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None