developmental and epileptic encephalopathy 44

Summary

DOID:0080424 - developmental and epileptic encephalopathy 44

Disease Ontology Definition:A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.

Synonyms: DEE44, early infantile epileptic encephalopathy 44

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

: uba5

MIM:

MIM:617132 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44; DEE44

MIM:617132 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44; DEE44

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)