Dystonia 33 - CISMeF

" /> Dystonia 33 - CISMeF

CISMeF

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Dystonia 33OMIM Phenotype

Preferred Label : Dystonia 33;

Symbol : DYT33;

Type : Phenotype, molecular basis known;

Prefixed ID : #619687;

Détails

Origin ID

619687;

UMLS CUI

C5562054;

Genes related to phenotype
- Eukaryotic translation initiation factor 2-alpha kinase 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Axial dystonia [HPO term]
- Babinski sign [HPO term]
- Childhood onset [HPO term]
- Dystonia [HPO term]
- Early young adult onset [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Limb dystonia [HPO term]
- Neonatal seizure [HPO term]
- Pes cavus [HPO term]
- Spasticity [HPO term]
- Vertical supranuclear gaze palsy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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31/07/2025

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