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ENArthrogryposis, Distal, Type 2b1 (DA2B1)
Alias:
Sheldon-Hall Syndrome
Distal Arthrogryposis Type 2b1
Arthrogryposis Multiplex Congenita, Distal, Type 2b
Freeman-Sheldon Syndrome Variant
Da2b1
Shs
Distal Arthrogryposis Type 2b
Fssv
Arthrogryposis Multiplex Congenita, Distal, Type Ii, with Craniofacial Abnormalities
Arthrogryposis Multiplex Congenita Distal Type Ii with Craniofacial Abnormalities
Arthrogryposis Multiplex Congenita Distal Type 2b
Arthrogryposis, Distal, Type 2b1a
Arthrogryposis, Distal, 2b1
Amcd2b
Da2b
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Arthrogryposis, Distal, Type 2b1, also known as sheldon-hall syndrome, is related to arthrogryposis, distal, type 5 and arthrogryposis, distal, type 1a, and has symptoms including ulnar deviation of the wrist An important gene associated with Arthrogryposis, Distal, Type 2b1 is TNNI2 (Troponin I2, Fast Skeletal Type), and among its related pathways/superpathways are Cardiac conduction and 5q35 copy number variation. Affiliated tissues include skin and skeletal muscle, and related phenotypes are scoliosis and joint stiffness
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