Search Ontology:
Human Disease
dystonia 31
- Term ID
- DOID:0060938
- Synonyms
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- DYT31
- ZECH-BOESCH SYNDROME
- Definition
- A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. https://pubmed.ncbi.nlm.nih.gov/34596301/
- References
- Ontology
- Human Disease ( DOID:0060938 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models