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GENATLAS PHENOTYPE

last update : 03-10-2017

Symbol	LJFS3
Location	Xq24
Name	Lujan-Fryns syndrome 3
Corresponding gene	UPF3B
Main clinical features	marfanoid habitus and craniofacial changes : long, narrow face, small mandible, high-arched palate, and hypernasal voice, moderate mental retardation (autistic-like disorder), cardiac anomalies (ventricular septal defect or aortic root dilation) long and thin habitus, moderate mental retardation, joint hypermobility, pectus excavatum, long mobile digits agenesis of corpus callosum
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	osteo-articular
	mental retardation
Type	disease

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