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GENATLAS PHENOTYPE

last update : 08-03-2022

Symbol	RRPAS
Location	16p13.3
Name	renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, skeletal dysplasia
Other name(s)	conorenal syndrome Mainzer-Saldino syndrome Short-rib thoracic dysplasia 9
Corresponding gene	IFT140
Other symbol(s)	MSS, SRTD9
Main clinical features	cone-shaped epiphyses, very short distal phalanges, some of which appeared flexed, primarily glomerular disorder, retinal dystrophy with Leber congenital amaurosis, and short stature, cerebellar ataxia, and hepatic fibrosis skeletal abnormalities overlap with clinical symptoms of Jeune and Sensenbrenner syndromes—namely, short hands, hip and cranial abnormalities, narrow chest
Genetic determination	autosomal recessive
Function/system disorder	eye
	kidney and urinary tract
	osteo-articular
	neurology
Type	disease

Remark(s)