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GENATLAS PHENOTYPE

last update : 13-02-2018

Symbol	RBNS5
Location	17p13.3
Name	Robinow syndrome 5
Corresponding gene	NXN
Main clinical features	typical facial characteristics, mesomelia, brachydactyly, and broad thumbs/toes high forehead, hypertelorism, prominent eyes, anteverted nares, long philtrum, triangular mouth, gingival hyperplasia, micrognathia mesomelia, brachydactyly, broad thumb
Genetic determination	autosomal recessive
Prevalence	5 p100 of Robinow syndrome
Function/system disorder	osteo-articular
	eye
Type	disease

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