|
DOID:0080458 - developmental and epileptic encephalopathy 35
Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.
Synonyms: DEE35, ITPA-related encephalopathy, early infantile epileptic encephalopathy 35,
Xenbase Genes
:
itpa
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)