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GENATLAS PHENOTYPE

last update : 10-05-2014

Symbol	AMCD5
Location	18p11.2
Name	arthrogryposis, multiplex congenita, distal, type 5
Other name(s)	arthrogryposis distal type 2B oculomelic amyoplasia
Corresponding gene	PIEZO2
Other symbol(s)	DA2B
Main clinical features	distal arthrogryposis, including ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles contractures of the fingers, toes, wrist, ankles, knees, and elbows with a lack of interphalangeal creases
Genetic determination	autosomal dominant
Function/system disorder	eye
	neuromuscular
Type	disease

Remark(s)