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XYLT1-CDG

ORPHA:370930 · Disease · Disorder

HPO 表現型（共 29 項）

Frequent (79-30%)(23)

  • Accelerated skeletal maturationHP:0005616
  • AcneHP:0001061
  • Broad ribsHP:0000885
  • Broad thumbHP:0011304
  • ClinodactylyHP:0030084
  • Coxa valgaHP:0002673
  • Flared metaphysisHP:0003015
  • Growth delayHP:0001510
  • HepatomegalyHP:0002240
  • Joint dislocationHP:0001373
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • MicrocephalyHP:0000252
  • Moderate intellectual disabilityHP:0002342
  • Moon faciesHP:0500011
  • Pes planusHP:0001763
  • Short claviclesHP:0000894
  • Short femoral neckHP:0100864
  • Short long boneHP:0003026
  • Short statureHP:0004322
  • Soft, doughy skinHP:0001027
  • SynophrysHP:0000664
  • Thick vermilion borderHP:0012471

Occasional (29-5%)(6)

  • Cleft palateHP:0000175
  • HirsutismHP:0001007
  • MyopiaHP:0000545
  • ProptosisHP:0000520
  • Relative macrocephalyHP:0004482
  • Truncal obesityHP:0001956