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GENATLAS PHENOTYPE

last update : 13-02-2009

Symbol	SROS
Location	Xp22.11
Name	mental retardation, Snyder Robinson type
Other name(s)	Snyder Robinson syndrome
Corresponding gene	SMS
Other symbol(s)	MRSR, SRS
Main clinical features	syndromic, marfanoid habitus and muscle hypotrophy, osteoporosis, kyphoscoliosis, prominent lower lip, left palate and facial asymmetry hypotonia and unsteady gait, mild-to-moderate mental retardation, facial asymmetry of the lower face and orbital region, thickened lower lip, nasal dysarthric and/or slow speech, thin habitus with diminished muscle bulk, osteoporosis, kyphoscoliosis, and long hands with hyperextensible fingers (de Alencastro 2008)
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	disease

Gene product

Name	spermine synthase

Remark(s)

Genotype/Phenotype correlations

missense mutation in the N-terminal domain of the protein which greatly reduces its enzyme activity in lymphoblastoid cells and is associated with a severe form (de Alencastro 2008)