developmental and epileptic encephalopathy 35

Summary

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, early infantile epileptic encephalopathy 35, ITPA-related encephalopathy

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: itpa

MIM:

MIM:616647 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35

MIM:616647 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), developmental and epileptic encephalopathy (is_a)