Intellectual developmental disorder with hypotonia and behavioral abnormalities

Preferred Label : Intellectual developmental disorder with hypotonia and behavioral abnormalities;

Symbol : IDDHBA;

CISMeF acronym : IDDHBA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cyclin-dependent kinase 8 gene (CDK8, 603184.0001);

Prefixed ID : #618748;

Détails

Origin ID

618748;

UMLS CUI

C5231489;

Genes related to phenotype
- Cyclin-dependent kinase 8 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anteriorly placed anus [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Difficulty walking [HPO term]
- Episodic vomiting [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Hypoplastic left heart [HPO term]
- Intellectual disability [HPO term]
- Metopic synostosis [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Patent foramen ovale [HPO term]
- Ptosis [HPO term]
- Rectoperineal fistula [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Strabismus [HPO term]
- Tetralogy of Fallot [HPO term]
- Ventricular septal defect [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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