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GENATLAS PHENOTYPE

last update : 12/03/08

Symbol	MPTLT3
Location	2q24-q32
Name	multiple pterygium syndrome, lethal type 3
Corresponding gene	CHRNA1
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
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
nonsense		abnormal protein/loss of function	homozygous nonsense mutations