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Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

ORPHA:1144 · Malformation syndrome · Disorder

HPO 表現型（共 5 項）

Very frequent (99-80%)(3)

  • ArachnodactylyHP:0001166
  • Joint stiffnessHP:0001387
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(2)

  • CachexiaHP:0004326
  • Short statureHP:0004322