Mirror movements 2

Preferred Label : Mirror movements 2;

Symbol : MRMV2;

CISMeF acronym : MRMV2;

Type : Phenotype, molecular basis known;

Description : Mirror movements are involuntary movements of a side of the body that mirror intentional movements on the opposite side. Mild mirror movements are physiologic in young children and gradually disappear within the first decade of life, likely due to maturation of the motor network. Mirror movements that persist beyond age 10 years represent a rare disorder usually showing autosomal dominant inheritance with incomplete penetrance (summary by Depienne et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of S. cerevisiae RAD51 gene (RAD51, 179617.0003);

Prefixed ID : #614508;

Détails

Origin ID

614508;

UMLS CUI

C3281089;

Automatic exact mappings (from CISMeF team)
- RAD51 wt Allele [NCIt concept]
Genes related to phenotype
- Rad51 recombinase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bimanual synkinesia [HPO term]
- Incomplete penetrance [HPO term]
ORDO concept(s)
- Familial congenital mirror movements [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Familial congenital mirror movements [ORDO Disease]

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

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