Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 11-05-2017

Symbol	LCCS8
Location	12q13.12
Name	lethal congenital contracture syndrome 8
Corresponding gene	ADCY6
Main clinical features	characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period transmission electron microscopic analysis of nerve showed no myelinated axons and some redundant basal lamina of Schwann cells
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)