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Hoyeraal-Hreidarsson syndrome

ORPHA:3322 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(10)

  • Cerebellar hypoplasiaHP:0001321
  • Dermal atrophyHP:0004334
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • ImmunodeficiencyHP:0002721
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Short statureHP:0004322
  • ThrombocytopeniaHP:0001873

Frequent (79-30%)(12)

  • Abnormality of coagulationHP:0001928
  • AnemiaHP:0001903
  • Cerebral cortical atrophyHP:0002120
  • Excessive wrinkled skinHP:0007392
  • Generalized hyperpigmentationHP:0007440
  • Generalized hypopigmentation of hairHP:0011358
  • HypertoniaHP:0001276
  • Nail dystrophyHP:0008404
  • Oral leukoplakiaHP:0002745
  • Premature graying of hairHP:0002216
  • Sparse scalp hairHP:0002209
  • VentriculomegalyHP:0002119

Occasional (29-5%)(6)

  • Abnormal leukocyte morphologyHP:0001881
  • AtaxiaHP:0001251
  • Bone marrow hypocellularityHP:0005528
  • Cerebral calcificationHP:0002514
  • HyporeflexiaHP:0001265
  • NeoplasmHP:0002664