Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 26-08-2010

Symbol	STOL1
Location	19p13.2
Name	Sotos-like syndrome 1
Corresponding gene	NFIX
Other symbol(s)	SOTOS2
Main clinical features	postnatal overgrowth, macrocephaly, advanced bone age, long narrow face, high forehead, slender habitus, scoliosis, unusual behavior characterized especially by anxiety, and mental retardation
Genetic determination	not applicable
Function/system disorder	neurology
	osteo-articular
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		haploinsufficiency

Remark(s)