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GENATLAS PHENOTYPE

last update : 16-11-2022

Symbol	SRTD19
Location	12q24.11
Name	short-rib thoracic dysplasia 19 with or without polydactyly
Corresponding gene	IFT81
Main clinical features	constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life
Genetic determination	autosomal recessive
Function/system disorder	eye
	neurology
	osteo-articular
Type	disease

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