Craniosynostosis 6

Preferred Label : Craniosynostosis 6;

Symbol : CRS6;

CISMeF acronym : CRS6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the zinc finger protein of cerebellum-1 gene (ZIC1, 600470.0004);

Prefixed ID : #616602;

Details

Origin ID

616602;

UMLS CUI

C4225269;

Genes related to phenotype
- Zic family, member 1 [OMIM gene]
HPO term(s)
- Abnormal corpus callosum morphology [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Cerebellar atrophy [HPO term]
- Craniosynostosis [HPO term]
- Dandy-Walker malformation [HPO term]
- Delayed cranial suture closure [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Low anterior hairline [HPO term]
- Microcephaly [HPO term]
- Plagiocephaly [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spina bifida occulta [HPO term]
- Strabismus [HPO term]
- Turricephaly [HPO term]
ORDO concept(s)
- Isolated oxycephaly [ORDO Disease]
- Isolated plagiocephaly [ORDO Disease]
- Non-syndromic bicoronal craniosynostosis [ORDO Disease]
See also inter- (CISMeF)
- Isolated oxycephaly [ORDO Disease]
- Isolated plagiocephaly [ORDO Disease]
- Non-syndromic bicoronal craniosynostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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