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GENATLAS PHENOTYPE

last update : 17-11-2015

Symbol	AMCN5
Location	15q11.2
Name	arthrogryposis multiplex congenita, neurogenic 5
Corresponding gene	MAGEL2
Main clinical features	severe fetal phenotype characterized by polyhydramnios, reduced fetal mobility and distal joint contractures severe central hypotonia, club foot fetopathological examination revealed severe microretrognathia associated with short palpebral fissures, hypertelorism, a short and large neck, bilateral club foot, flexion of elbows and knees, and camptodactyly of the fingers
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

paternal MAGEL2 mutations are responsible for lethal AMC (AMCN5) (PMID: 26365340))