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GENATLAS PHENOTYPE

last update : 23-11-2016

Symbol	LCCS2
Location	12q13.2
Name	lethal congenital contracture syndrome 2
Other name(s)	multiple contracture syndrome, Israeli Bedouin type
Corresponding gene	ERBB3
Main clinical features	arthrogryposis associated with atrophy of the anterior horn of the spinal cord congenital contractures, multiple pterygia, and fractures, markedly distended urinary bladder and other urinary malformations
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	kidney and urinary tract
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
abnormal splicing		truncated protein

Remark(s)