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H syndrome

ORPHA:168569 · Malformation syndrome · Disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(6)

  • Decreased testicular sizeHP:0008734
  • Delayed pubertyHP:0000823
  • HistiocytosisHP:0100727
  • Hyperpigmentation of the skinHP:0000953
  • SclerodermaHP:0100324
  • Stiff skinHP:0030053

Frequent (79-30%)(6)

  • CamptodactylyHP:0012385
  • Hearing impairmentHP:0000365
  • HepatosplenomegalyHP:0001433
  • HypertrichosisHP:0000998
  • LymphadenopathyHP:0002716
  • Short statureHP:0004322

Occasional (29-5%)(38)

  • Abnormal cardiovascular system physiologyHP:0011025
  • Abnormal eyebrow morphologyHP:0000534
  • Abnormality of the kidneyHP:0000077
  • AlopeciaHP:0001596
  • AmenorrheaHP:0000141
  • AzoospermiaHP:0000027
  • BronchiectasisHP:0002110
  • Chronic rhinitisHP:0002257
  • Cleft upper lipHP:0000204
  • Corneal arcusHP:0001084
  • Delayed skeletal maturationHP:0002750
  • Diabetes mellitusHP:0000819
  • Enlarged kidneyHP:0000105
  • Facial telangiectasiaHP:0007380
  • Full cheeksHP:0000293
  • Gingival overgrowthHP:0000212
  • GynecomastiaHP:0000771
  • Hallux valgusHP:0001822
  • HerniaHP:0100790
  • HydrocephalusHP:0000238
  • HyperreflexiaHP:0001347
  • HypertriglyceridemiaHP:0002155
  • HypogonadismHP:0000135
  • IchthyosisHP:0008064
  • LipodystrophyHP:0009125
  • MalabsorptionHP:0002024
  • Microcytic anemiaHP:0001935
  • MicropenisHP:0000054
  • Mild intellectual disabilityHP:0001256
  • OsteolysisHP:0002797
  • Pes planusHP:0001763
  • ProptosisHP:0000520
  • Psoriasiform dermatitisHP:0003765
  • Recurrent feverHP:0001954
  • Recurrent fracturesHP:0002757
  • Recurrent pharyngitisHP:0100776
  • Upper eyelid edemaHP:0012724
  • Varicose veinsHP:0002619