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GENATLAS PHENOTYPE

last update : 17-11-2015

Symbol	SCKL8
Location	10q21.3
Name	Seckel syndrome-8
Corresponding gene	DNA2
Main clinical features	intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance developmental delay and intellectual disability, kyphoscoliosis
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	osteo-articular
Type	disease

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