Dyskinesia with orofacial involvement, autosomal recessive

Preferred Label : Dyskinesia with orofacial involvement, autosomal recessive;

Symbol : DSKOR;

Type : Phenotype, molecular basis known;

Prefixed ID : #619647;

Détails

Origin ID

619647;

UMLS CUI

C5562036;

Genes related to phenotype
- Adenylate cyclase 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Frequent falls [HPO term]
- Hypothyroidism [HPO term]
- Motor delay [HPO term]
- Myoclonus [HPO term]
- Tremor [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

Vous pouvez consulter :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients