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GENATLAS PHENOTYPE

last update : 10-05-2017

Symbol	LCCS12
Location	19q13.12
Name	lethal congenital contracture syndrome 12
Corresponding gene	LGI4
Main clinical features	club foot associated with bilateral camptodactyly and atrophy of calves with fetal akinesia associated with bilateral flexion of both feet and hands asocated to microretrognathia, adduction of thumbs, flexion of feet, pulmonary hypoplasia, and thin diaphragmatic cupolae, and verbal developmental delay transmission electron microscopy confirmed the lack of myelinated fibers in the sciatic nerve of the affected individual when compared to an age-matched control case
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)