| Metadata | |
|---|---|
| ID | DOID:0081327 |
| Name | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures |
| 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. https://pubmed.ncbi.nlm.nih.gov/30057031/, https://pubmed.ncbi.nlm.nih.gov/30166628/, https://rarediseases.org/gard-rare-disease/irf2bpl-related-disorders/, https://www.bcm.edu/news/wnt-signaling-is-identified-as-a-target-in-nedamss-disorder, https://www.childneurologyfoundation.org/disorder/irf2bpl/ |
| Xrefs | |
| Synonyms |
NEDAMSS [EXACT] |
| Parent Relationships |