Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 20-05-2015

Symbol	MPTSA1
Location	17p13.1
Name	multiple pterygium syndrome autosomal dominant 1
Other name(s)	distal arthrogryposis type 8
Corresponding gene	MYH3
Other symbol(s)	DA8
Main clinical features	multiple pterygia of the limbs, severe scoliosis, and vertebral fusions and did not have contractures of the facial muscles difficulty in opening the mouth widely, scoliosis, pectus excavatum, slight cutaneous syndactyly, malformed carpal bones, and an altered metacarpal-phalangeal pattern
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)