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DOID:0081327 - neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Disease Ontology Definition:A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24.
Synonyms: NEDAMSS
Xenbase Genes
:
irf2bpl
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
neurodegenerative disease (is_a)