Spinocerebellar ataxia, autosomal recessive 30

Preferred Label : Spinocerebellar ataxia, autosomal recessive 30;

Symbol : SCAR30;

Type : Phenotype, molecular basis known;

Prefixed ID : #619405;

Détails

Origin ID

619405;

UMLS CUI

C5543620;

Genes related to phenotype
- Pitrilysin metallopeptidase 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brisk reflexes [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Dysmetria [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Global developmental delay [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Psychotic episodes [HPO term]
- Titubation [HPO term]
- Tremor [HPO term]
- Unsteady gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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