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GENATLAS PHENOTYPE

last update : 25-11-2016

Symbol	LCCS7
Location	17q21.2
Name	lethal congenital contracture syndrome 7
Corresponding gene	CNTNAP1
Main clinical features	distal arthrogryposis multiplex congenita found by fetal ultrasound between 28 and 32 weeks of gestation, with fetal hypo- or akinesia polyhydramnios, distal joint contractures, and severe motor paralysis at birth, leading to death within the first 2 months of life transmission electron microscopic analysis of sciatic nerve showed marked widening of the nodes of Ranvier and thin myelin sheaths as compared to control tissue of matched gestational age
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

frameshift mutations leading to premature termination of transcription and resulting in death within the first several weeks of life (PMID: 27668699))