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GENATLAS PHENOTYPE

last update : 02-07-2009

Symbol	MPTLT5
Location	4p16.2
Name	multiple pterygium syndrome, lethal type 5
Corresponding gene	DOK7
Other symbol(s)	FADS
Main clinical features	fetal akinesia with hydrops, contractures, pterygia, and a fatal prognosis early severe fetal akinesia deformation sequence cystic hygroma and hydrops multiple pterygia and arthrogryposis
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)