Intellectual developmental disorder, autosomal dominant 29

Preferred Label : Intellectual developmental disorder, autosomal dominant 29;

Symbol : MRD29;

CISMeF acronym : MRD29;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 29;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SET-binding protein 1 gene (SETBP1, 611060.0006);

Prefixed ID : #616078;

Details

Origin ID

616078;

UMLS CUI

C4015141;

Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 29 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 29 [DO Concept]
Genes related to phenotype
- Set-binding protein 1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Absent speech [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Downslanted palpebral fissures [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Motor delay [HPO term]
- Narrow palate [HPO term]
- Pointed chin [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- Intellectual disability-expressive aphasia-facial dysmorphism syndrome [ORDO Disease]
See also inter- (CISMeF)
- Intellectual disability-expressive aphasia-facial dysmorphism syndrome [ORDO Disease]
- SETBP1 wt Allele [NCIt concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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