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GENATLAS PHENOTYPE

last update : 25-03-2015

Symbol	SMPS2
Location	12p12.1
Name	Schimmelpenning syndrome 2
Corresponding gene	KRAS
Main clinical features	association of nevus sebaceous with cerebral, ocular or skeletal defects ocular abnormalities in the context of Schimmelpenning syndrome may include lipodermoids and coloboma; skeletal defects comprise incomplete formation of bony structures, hypoplastic bones, short stature and vitamin D–resistant hypophosphatemic rickets
Genetic determination	not applicable
Function/system disorder	dermatology
	eye
	osteo-articular
Type	disease

Remark(s)

. cutaneous mosaicism for postzygotic activating mutations of HRAS and KRAS causes nevus sebaceous (PMID: 22683711))