neurodevelopmental disorder with involuntary movements
Information
- Disease name
- neurodevelopmental disorder with involuntary movements
- Disease ID
- DOID:0112276
- Description
- "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13." [url:https\://pubmed.ncbi.nlm.nih.gov/27068059/, url:https\://pubmed.ncbi.nlm.nih.gov/28357411/]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| GNAO1 | 16 | 56,191,489 | 56,348,199 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT06412653 | Not yet recruiting | Phase 2 | Prospective Pilot Trial to Address Feasibility and Safety of Oral Zinc in GNAO1 Associated Disorders | June 2024 | March 2026 |
- Disase is a (Disease Ontology)
- DOID:480
- Cross Reference ID (Disease Ontology)
- MIM:617493
- Exact Synonym (Disease Ontology)
- NEDIM