Term Name: | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures |
---|---|
Synonyms: | NEDAMSS |
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. |
Ontology: | Human Disease [DOID:0081327] ( DOID:0081327 ) |