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GENATLAS PHENOTYPE

last update : 18-02-2012

Symbol	GFS3
Location	19q13.32
Name	gloomy face syndrome 3
Other name(s)	3M syndrome 3
Corresponding gene	CCDC8
Other symbol(s)	3M3
Main clinical features	poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips, and may include skeletal anomalies and prominent heels low birth weight dwarfism, narrow facies, grooved lower anterior thorax, and clinodactyly, no mental retardation
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)