neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures Disease Ontology Browser

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Disease Ontology Browser

neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (DOID:0081327)
Alliance: disease page
Synonyms: NEDAMSS
Alt IDs: OMIM:618088
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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