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GENATLAS PHENOTYPE

last update : 16-11-2022

Symbol	SRTD20
Location	4q28.1
Name	short-rib thoracic dysplasia 20 with polydactyly
Corresponding gene	INTU
Main clinical features	skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof also open anterior fontanel, significant brachycephaly with frontal bossing, very low posterior hairline, low-set malformed ears, hypertelorism
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

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