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GENATLAS PHENOTYPE

last update : 14-11-2023

Symbol	AMCN4
Location	6q24.2
Name	arthrogryposis multiplex congenita, neurogenic 4
Other name(s)	Lethal congenital contracture syndrome 9
Corresponding gene	ADGRG6
Other symbol(s)	LCCS9
Main clinical features	arthrogryposis multiplex congenita of neurogenic origin adducted thumbs, ulnar deviation, fixed flexion contractures of the hands and wrists, and reduction of digital creases including lethal congenital contracture syndrome 9 (LCCS9), severe arthrogryposis multiplex congenita, with distal joint contractures, diaphragmatic defect, and reduced fetal mobility, identified at antenatal ultrasound
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

Genotype/Phenotype correlations

biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome (PMID: 36210633))