WormBase Tree Display for DO_term: DOID:0081327
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| DOID:0081327 | Name | neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | NEDAMSS | |||
| Parent | Is_a | DOID:1289 | |||
| DB_info | Database | OMIM | disease | 618088 | |
| Attribute_of | Gene_by_orthology | WBGene00010867 |
