Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Preferred Label : Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language;

Symbol : NEDHSIL;

CISMeF acronym : MRD20;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; Mental retardation, autosomal dominant 20; MRD20;

Included titles and symbols : Chromosome 5q14.3 deletion syndrome, proximal;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MADS box transcription enhancer factor 2, polypeptide C gene (MEF2C, 600662.0001);

Prefixed ID : #613443;

Détails

Origin ID

613443;

UMLS CUI

C3150700;

Currated CISMeF NLP mapping
- 5q14.3 microdeletion syndrome [ORDO Disease]
- autosomal dominant mental retardation 20 [DO Concept]
DO Cross reference
- autosomal dominant mental retardation 20 [DO Concept]
Genes related to phenotype
- Myocyte enhancer factor 2c [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal periventricular white matter morphology [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability, severe [HPO term]
- Low-set ears [HPO term]
- Motor delay [HPO term]
- Poor eye contact [HPO term]
- Seizure [HPO term]
- Short chin [HPO term]
- Short nose [HPO term]
- Short philtrum [HPO term]
- Sporadic [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- 5q14.3 microdeletion syndrome [ORDO Disease]
See also inter- (CISMeF)
- 5q14.3 microdeletion syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5q14.3 microdeletion syndrome [ORDO Disease]
- autosomal dominant mental retardation 20 [DO Concept]

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