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ANE syndrome

ORPHA:157954 · Disease · Disorder

HPO 表現型（共 28 項）

Frequent (79-30%)(25)

  • Abnormal response to ACTH stimulation testHP:0031074
  • Adrenocorticotropin deficient adrenal insufficiencyHP:0011735
  • AlopeciaHP:0001596
  • Anterior pituitary hypoplasiaHP:0010627
  • Carious teethHP:0000670
  • Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
  • Decreased response to growth hormone stimulation testHP:0000824
  • Decreased serum testosterone concentrationHP:0040171
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • GynecomastiaHP:0000771
  • Hyperpigmentation of the skinHP:0000953
  • Hyperpigmented neviHP:0007481
  • HypodontiaHP:0000668
  • Hypogonadotropic hypogonadismHP:0000044
  • Intellectual disabilityHP:0001249
  • KyphoscoliosisHP:0002751
  • LipoatrophyHP:0100578
  • MicrocephalyHP:0000252
  • Motor deteriorationHP:0002333
  • Motor neuron atrophyHP:0007373
  • Multiple joint contracturesHP:0002828
  • Premature loss of teethHP:0006480
  • Short statureHP:0004322
  • Ulnar deviation of the handHP:0009487

Occasional (29-5%)(3)

  • Generalized amyotrophyHP:0003700
  • Pituitary hypothyroidismHP:0008245
  • Reduced circulating prolactin concentrationHP:0008202