Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Disease ID: disease_node_16097
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| Dbxref | MIM:618088 |
|---|---|
| Subclassof | DOID_1289 |
| Data Source | DOID |
| Synonyms | NEDAMSS |
| Doid Label | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures |
| Doid Description | 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. |
| Disease Node Id | disease_node_16097 |
| Doid Id | DOID_0081327 |
| Label | Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
- Outgoing r'ship
SUBCLASS_OFto/from Neurodegenerative Diseases(ID:disease_node_9989) (Disease)