| Metadata | |
|---|---|
| ID | DOID:0061253 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061253 Copy |
| Name | neurodevelopmental disorder with speech delay, movement abnormalities, and seizures |
| Definition | An autosomal dominant intellectual developmental disorder characterized by motor delay with mildly delayed walking, variably impaired intellectual development with poor or absent speech, behavioral abnormalities, early-onset seizures, and movement abnormalities, including tremor, ataxia, and dyskinesias that has_material_basis_in heterozygous mutation in the UNC13A gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/41125872/ |
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