Gene: [09^/AMCD1] arthrogryposis multiplex congenita, distal, type 1; [DA1 ]

PAT

Distal arthrogryposis type 1 is one of the most common causes of inherited multiple congenital contractures. Bamshad-1996 revised and extended the classification of the distal arthrogryposes provided by Hall-1982. They categorized variant of Freeman-Sheldon syndrome (GEM:11p155/AMCD2B) as distal arthrogryposis type 2. On Freeman-Sheldon syndrome see also MIM:193700."

REL

GEM:09^/IBM2; GEM:0X^/AMCD.

REF

REV,PAT,NOM "Bamshad M &: Am J Med Genet, 65, 277-281, 1996
LIN,LOC "Bamshad M &: AJHG, 55, 1153-1158, 1994
PAT,REV "Hall JG &: Am J Med Genet, 11, 185-239, 1982
PAT "Klemp P, Hall JG: Am J Med Genet, 55, 414-419, 1995

KEY

myo, devd

CLA

unknown, basic

LOC

09 p22-q22.3

MIM

MIM: 108120

SYN

DA1