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GENATLAS PHENOTYPE

last update : 08-07-2015

Symbol	FADSL
Location	9q31.3
Name	fetal akinesia deformation sequence lethal
Corresponding gene	MUSK
Main clinical features	congenital malformations related to impaired fetal movement fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism fetal myopathy was accompanied by impaired acetylcholine receptor clustering and reduced tyrosine kinase activity at motor nerve endings
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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