Intellectual developmental disorder, autosomal dominant 21

Preferred Label : Intellectual developmental disorder, autosomal dominant 21;

Symbol : MRD21;

CISMeF acronym : MRD21;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 21;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CCCTC-binding factor gene (CTCF, 604167.0001);

Prefixed ID : #615502;

Details

Origin ID

615502;

UMLS CUI

C3809686;

Automatic exact mappings (from CISMeF team)
- CTCF wt Allele [NCIt concept]
- CTCF-related neurodevelopmental disorder [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 21 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 21 [DO Concept]
Genes related to phenotype
- Ccctc-binding factor [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Incisor macrodontia [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Low-set, posteriorly rotated ears [HPO term]
- Microcephaly [HPO term]
- Narrow mouth [HPO term]
- Patent ductus arteriosus [HPO term]
- Recurrent infections [HPO term]
- Sacral dimple [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Strabismus [HPO term]
- Thin vermilion border [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- CTCF-related neurodevelopmental disorder [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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