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ENArthrogryposis, Distal, Type 2a (DA2A)
Alias:
Freeman-Sheldon Syndrome
Craniocarpotarsal Dystrophy
Craniocarpotarsal Dysplasia
Distal Arthrogryposis Type 2a
Whistling Face-Windmill Vane Hand Syndrome
Whistling Face Syndrome
Da2a
Freeman-Burian Syndrome
Fss
Distal Arthrogryposis, Type 2a
Arthrogryposis, Distal, 2a
Fbs
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Arthrogryposis, Distal, Type 2a, also known as freeman-sheldon syndrome, is related to arthrogryposis, distal, type 2b1 and arthrogryposis syndrome, and has symptoms including seizures An important gene associated with Arthrogryposis, Distal, Type 2a is MYH3 (Myosin Heavy Chain 3), and among its related pathways/superpathways are Sweet Taste Signaling and RNA Polymerase II Transcription Initiation And Promoter Clearance. Affiliated tissues include eye and skin, and related phenotypes are failure to thrive and scoliosis
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