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Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

ORPHA:3363 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(1)

  • Retinal degenerationHP:0000546

Frequent (79-30%)(14)

  • AlopeciaHP:0001596
  • AtaxiaHP:0001251
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed skeletal maturationHP:0002750
  • Growth delayHP:0001510
  • HypogonadismHP:0000135
  • HypothyroidismHP:0000821
  • Intellectual disabilityHP:0001249
  • Long eyelashesHP:0000527
  • Neonatal hyperbilirubinemiaHP:0003265
  • Peripheral neuropathyHP:0009830
  • Pigmentary retinopathyHP:0000580
  • Small for gestational ageHP:0001518
  • Sparse hairHP:0008070

Occasional (29-5%)(5)

  • Abnormality of the dentitionHP:0000164
  • CryptorchidismHP:0000028
  • Frontal bossingHP:0002007
  • MicropenisHP:0000054
  • MyopiaHP:0000545

Very rare (<4-1%)(2)

  • MicrocephalyHP:0000252
  • SeizureHP:0001250