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GENATLAS PHENOTYPE

last update : 22-2-2012

Symbol	GFS2
Location	2q35
Name	gloomy face syndrome 2
Other name(s)	3M syndrome 2 three M syndrome Le Merrer syndrome dolichospondylic dysplasia
Corresponding gene	OBSL1
Other symbol(s)	3M2
Main clinical features	low birth weight dwarfism, narrow facies, triangular shaped face, prominent ears, fleshy tipped anteverted nares, and clinodactyly, grooved lower anterior thorax, no mental retardation
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)

mutation in the first 6 exons (Hanson 2009)