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GENATLAS PHENOTYPE

last update : 07-12-2019

Symbol	SFMS
Location	Xq13.3
Name	Smith-Fineman-Myers syndrome
Corresponding gene	ATRX
Main clinical features	severe mental retardation, microcephaly, growth failure, facial anomalies and bilateral cryptorchidism overlapping with the ATRX syndrome
Genetic determination	sex linked
Function/system disorder	metabolism/porphyrin and heme
	mental retardation
Type	disease

Gene product

Name	transcription regulator XH2 (ATRX)

Remark(s)

no mutations in the ATRX gene have been reported in the original families, thus allelism with ATRX syndrome is not proven