Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

Preferred Label : Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder;

Symbol : CHDFIDD;

CISMeF acronym : CHDFIDD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cyclin-dependent kinase 13 gene (CDK13, 603309.0001);

Prefixed ID : #617360;

Details

Origin ID

617360;

UMLS CUI

C4479246;

Genes related to phenotype
- Cyclin-dependent kinase 13 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Camptodactyly [HPO term]
- Clinodactyly [HPO term]
- Curly hair [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Narrow mouth [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Small cerebral cortex [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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