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GENATLAS PHENOTYPE

last update : 23-11-2016

Symbol	LCCS11
Location	15q21.2
Name	lethal congenital contracture syndrome 11
Corresponding gene	GLDN
Main clinical features	arthrogryposis multiplex congenita, developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements transmission electron microscopy of the sciatic nerve from one of the affected individuals showed a marked lengthening defect of the nodes postmortem examination revealed distal arthrogryposis of the hands, bilateral clubfoot, and pulmonary hypoplasia
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

mutations found in the affected individuals abolish the cell surface localization of gliomedin and its interaction with its axonal partner, neurofascin-186 (PMID: 27616481))