Names of Genes - Arthrogryposis category

Gene Chromosome Location Syndrome
ADCY612q13.12Lethal congenital contracture syndrome 8 (LCCS8)
CHRNA12q31.1Congenital myasthenic syndrome
CHRND2q37.1Congenital myasthenic syndrome
CHRNG2q37.1Multiple pterygium syndrome
DHCR241p32.3Desmosterolosis
DMPK19q13.32Arthrogryposis - other
ECEL12q37.1Distal arthrogryposis type 5
ERBB312q13Lethal arthrogryposis with anterior horn cell disease
ERCC119q13.32Cerebro-oculo-facio-skeletal syndrome 4 (COFS4)
FBN25q23-31Congenital contractural arachnodactyly
FKBP1017q21.2Kuskokwim syndrome
GBE13p12.3Glycogen storage disease type IV (GSD IV)
GLE19q34.11Lethal arthrogryposis with anterior horn cell disease
KIF5C2q23.1Cortical dysplasia with other brain malformations 2 (CDCBM2)
MYBPC112q23.2Distal arthrogryposis type 1
MYH1317p13.1Arthrogryposis - other
MYH217p13.1Arthrogryposis - other
MYH317p13.1Freeman-Sheldon or Sheldon-Hall
MYH817p13.1Distal arthrogryposis type 7
MYH817p13.1Trismus-pseudocamptodactyly
PIEZO218p11.22Distal arthrogryposis type 3
PIP5K1C19p13.3Lethal arthrogryposis with anterior horn cell disease
RAPSN11p11.2Arthrogryposis - other
RYR119q13.2Multiminicore disease
SEPN11p36.13Multiminicore disease
SLC35A31p21Arthrogryposis mental retardation and seizures (AMRS)
SNM15q13.2Arthrogryposis - other
STAC312q13.3Native American myopathy
TNNI211p15.5Distal arthrogryposis type 2B (Sheldon-Hall syndrome)
TNNT311p15.5Distal arthrogryposis type 2B (Sheldon-Hall syndrome)
TPM29p13Distal arthrogryposis type 1
UBA123p11.3Arthrogryposis - other
VIPAS3914q24.3Arthrogryposis renal dysfunction and cholestasis syndrome 2 (ARCS2)
VPS33B15q26.1Arthrogryposis renal dysfunction and cholestasis syndrome 2 (ARCS2)
ZC4H223q11.2Wieacker-Wolf syndrome


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