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OMIM ID
601680
OMIM term:
ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B
Alternative terms:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
SHELDON-HALL SYNDROME; SHS
FREEMAN-SHELDON SYNDROME VARIANT; FSSV
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE II, WITH CRANIOFACIAL ABNORMALITIES
(∗) Location:
11p15.5 17p13.1 9p13.3
(†) Associated OMIM genes:
MYH3
TNNI2
TNNT3
TPM2
(‡) Associated MGI genes:
Mouse
Zebrafish
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