Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 10-10-2015

Symbol	CRS12
Location	3q24
Name	craniosynostosis, syndromatic 12
Corresponding gene	ZIC1
Main clinical features	severe craniosynostosis, specifically involving the coronal sutures, with mental retardation, moderate to severe learning disability at MRI, short, broad corpus callosum, peaked tentorium cerebelli (arrow), and hypoplasia of the pons (arrowhead), cerebellar vermis, and cerebellar hemispheres
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
	mental retardation
Type	disease

Remark(s)

. mutations affecting the highly conserved C terminus of the protein, which are likely to be associated with a gain of function (PMID: 26340333))