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Native American myopathy

ORPHA:168572 · Malformation syndrome · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(2)

  • Muscle weaknessHP:0001324
  • Myopathic faciesHP:0002058

Frequent (79-30%)(17)

  • Abnormal curvature of the vertebral columnHP:0010674
  • Abnormality of skeletal muscle fiber sizeHP:0012084
  • Arthrogryposis multiplex congenitaHP:0002804
  • Bilateral ptosisHP:0001488
  • Cleft palateHP:0000175
  • Congenital contractureHP:0002803
  • CryptorchidismHP:0000028
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • HypotoniaHP:0001252
  • Malignant hyperthermiaHP:0002047
  • Motor delayHP:0001270
  • Progressive congenital scoliosisHP:0008458
  • Respiratory insufficiencyHP:0002093
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202
  • Talipes equinovarusHP:0001762

Occasional (29-5%)(10)

  • Bifid uvulaHP:0000193
  • Conductive hearing impairmentHP:0000405
  • Diminished deep tendon reflexHP:0001315
  • Downslanted palpebral fissuresHP:0000494
  • Downturned corners of mouthHP:0002714
  • DysarthriaHP:0001260
  • High palateHP:0000218
  • MicrognathiaHP:0000347
  • Muscle fiber atrophyHP:0100295
  • Submucous cleft soft palateHP:0011819

Very rare (<4-1%)(5)

  • CamptodactylyHP:0012385
  • Facial hemangiomaHP:0000329
  • Inability to walkHP:0002540
  • Joint hypermobilityHP:0001382
  • Mild intellectual disabilityHP:0001256