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GENATLAS PHENOTYPE

last update : 25-10-2010

Symbol	DIASD
Location	7p14.3
Name	diaphanospondylodysostosis
Corresponding gene	BMPER
Main clinical features	perinatal lethal skeletal disorder a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue, craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears extraskeletal finding is nephroblastomatosis with cystic kidneys
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

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