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GENATLAS PHENOTYPE

last update : 14-04-2021

Symbol	SRS6
Location	11p15.4
Name	Russell Silver syndrome 6
Corresponding gene	CDKN1C
Main clinical features	prenatal and postnatal growth retardation, intrauterine growth retardation (IUGR) craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	disease

Remark(s)

. c.836G>[G;T] (p.Arg279Leu) mutation in a familial case of intrauterine growth retardation (IUGR) with RSS phenotype, inherited from their mothers (consistent with monoallelic expression from the maternal allele of the gene) (PMID: 24065356))