Dystonia 34, myoclonic - CISMeF

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CISMeF

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Dystonia 34, myoclonicOMIM Phenotype

Preferred Label : Dystonia 34, myoclonic;

Symbol : DYT34;

Type : Phenotype, molecular basis known;

Prefixed ID : #619724;

Details

Origin ID

619724;

UMLS CUI

C5676907;

Genes related to phenotype
- Potassium channel, calcium-activated, intermediate/small conductance, subfamily n, member 2 [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Duane anomaly [HPO term]
- Dystonia [HPO term]
- Hand tremor [HPO term]
- Head tremor [HPO term]
- Hypermetric saccades [HPO term]
- Impaired smooth pursuit [HPO term]
- Impaired tandem gait [HPO term]
- Juvenile onset [HPO term]
- Myoclonus [HPO term]
- Ptosis [HPO term]
- Rotary nystagmus [HPO term]
- Torticollis [HPO term]
- Writer's cramp [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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17/06/2025

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