Structural brain anomalies with impaired intellectual development and craniosynostosis

Preferred Label : Structural brain anomalies with impaired intellectual development and craniosynostosis;

Symbol : BAIDCS;

CISMeF acronym : BAIDCS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger protein of cerebellum-1 gene (ZIC1, 600470.0001);

Prefixed ID : #618736;

Details

Origin ID

618736;

UMLS CUI

C5231485;

Genes related to phenotype
- Zic family, member 1 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicoronal synostosis [HPO term]
- Brachycephaly [HPO term]
- Dandy-Walker malformation [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Dilation of lateral ventricles [HPO term]
- Downslanted palpebral fissures [HPO term]
- Facial asymmetry [HPO term]
- Flat occiput [HPO term]
- High forehead [HPO term]
- Hypoplasia of the pons [HPO term]
- Intellectual disability [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Low anterior hairline [HPO term]
- Microcephaly [HPO term]
- Optic nerve hypoplasia [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Spina bifida occulta [HPO term]
- Strabismus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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