Agenesis of corpus callosum, cardiac, ocular, and genital syndrome

Preferred Label : Agenesis of corpus callosum, cardiac, ocular, and genital syndrome;

Symbol : ACOGS;

CISMeF acronym : ACOGS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cadherin-2 gene (CDH2, 114020.0003);

Prefixed ID : #618929;

Details

Origin ID

618929;

UMLS CUI

C5394523;

Genes related to phenotype
- Cadherin 2 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Anxiety [HPO term]
- Atrioventricular canal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Auditory hallucinations [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bimanual synkinesia [HPO term]
- Broad forehead [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Depressed nasal bridge [HPO term]
- Dextrocardia [HPO term]
- Downslanted palpebral fissures [HPO term]
- Enlarged cisterna magna [HPO term]
- Focal impaired awareness seizure [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Impulsivity [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability [HPO term]
- Interhemispheric cyst [HPO term]
- Interhypothalamic Adhesion [HPO term]
- Long philtrum [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micropenis [HPO term]
- Periventricular heterotopia [HPO term]
- Peters anomaly [HPO term]
- Pointed chin [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Self-injurious behavior [HPO term]
- Short philtrum [HPO term]
- Smooth philtrum [HPO term]
- Sprengel anomaly [HPO term]
- Strabismus [HPO term]
- Supernumerary nipple [HPO term]
- Synophrys [HPO term]
- Telecanthus [HPO term]
- Thickened helices [HPO term]
- Thin upper lip vermilion [HPO term]
- Tricuspid regurgitation [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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