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GENATLAS PHENOTYPE

last update : 25-11-2016

Symbol	LCCS4
Location	12q23.2
Name	lethal congenital contracture syndrome 4
Corresponding gene	MYBPC1
Main clinical features	most severe, neonatally lethal, form of arthrogryposis, a disorder characterized by congenital nonprogressive joint contractures facial abnormalities, especially micrognathia, were found and autopsies demonstrated pulmonary hypoplasia, muscular atrophy, and paucity of anterior horn motor neurons
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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