Intellectual developmental disorder with hypertelorism and distinctive facies

Preferred Label : Intellectual developmental disorder with hypertelorism and distinctive facies;

Symbol : IDDHDF;

CISMeF acronym : IDDHDF;

Type : Phenotype, molecular basis known;

Included titles and symbols : Chromosome 14q32 deletion syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cyclin K gene (CCNK, 603544.0001);

Prefixed ID : #618147;

Details

Origin ID

618147;

UMLS CUI

C4748381;

Genes related to phenotype
- Cyclin k [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad nasal tip [HPO term]
- Global developmental delay [HPO term]
- High anterior hairline [HPO term]
- Hypertelorism [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Narrow jaw [HPO term]
- Pes planus [HPO term]
- Posteriorly rotated ears [HPO term]
- Tapered finger [HPO term]
- Thick nasal alae [HPO term]
- Thin eyebrow [HPO term]
- Wide nasal bridge [HPO term]
See also inter- (CISMeF)
- CCNK wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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