Search Ontology:
Human Disease

dystonia 31

Term ID
DOID:0060938
Synonyms
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models