Mirror movements 1

Preferred Label : Mirror movements 1;

Symbol : MRMV1;

CISMeF acronym : MRMV1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bimanual synergia; Mirror movements, congenital; Mirror movements 1 and/or agenesis of the corpus callosum;

Description : Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by Sharafaddinzadeh et al., 2008 and Srour et al., 2010). - Genetic Heterogeneity of Mirror Movements See also MRMV2 (614508), caused by mutation in the RAD51 gene (179617) on chromosome 15q15.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the deleted in colorectal carcinoma gene (DCC, 120470.0001);

Prefixed ID : #157600;

Détails

Origin ID

157600;

UMLS CUI

C1834870;

Automatic exact mappings (from CISMeF team)
- DCC wt Allele [NCIt concept]
- Familial congenital mirror movements (disorder) [SNOMED CT concept]
Genes related to phenotype
- Dcc netrin 1 receptor [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bimanual synkinesia [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability, mild [HPO term]
ORDO concept(s)
- Familial congenital mirror movements [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Familial congenital mirror movements [ORDO Disease]

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