ZFIN Human Disease: developmental and epileptic encephalopathy 39

OBO ID: DOID:0080349

Term Name:	developmental and epileptic encephalopathy 39		Search Ontology:
Synonyms:	AGC1 deficiency early infantile epileptic encephalopathy 39 epileptic encephalopathy with global cerebral demyelination
Definition:	A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. (3)
References:	MESH:C567847 OMIM:612949 ORDO:353217
Ontology:	Human Disease ( DOID:0080349 )

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 39 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC25A12	slc25a12	Developmental and epileptic encephalopathy 39	612949

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None