Intellectual developmental disorder, autosomal dominant 23

Preferred Label : Intellectual developmental disorder, autosomal dominant 23;

Symbol : MRD23;

CISMeF acronym : MRD23;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 23;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the set domain-containing protein 5 gene (SETD5, 615743.0001);

Prefixed ID : #615761;

Details

Origin ID

615761;

UMLS CUI

C3810406;

Automatic exact mappings (from CISMeF team)
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency [ORDO Disease]
- SETD5 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 23 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 23 [DO Concept]
Genes related to phenotype
- Set domain-containing protein 5 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Astigmatism [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad distal phalanx of finger [HPO term]
- Bulbous nose [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Drooling [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hyperlordosis [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Lower limb asymmetry [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Postaxial polydactyly [HPO term]
- Ptosis [HPO term]
- Sacral dimple [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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