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Temple syndrome

ORPHA:254516 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(7)

  • Floppy infantHP:0008947
  • Motor delayHP:0001270
  • Postnatal growth retardationHP:0008897
  • Precocious pubertyHP:0000826
  • Short footHP:0001773
  • Small for gestational ageHP:0001518
  • Small handHP:0200055

Frequent (79-30%)(9)

  • Delayed speech and language developmentHP:0000750
  • Feeding difficultiesHP:0011968
  • Feeding difficulties in infancyHP:0008872
  • Mild intellectual disabilityHP:0001256
  • Nasogastric tube feedingHP:0040288
  • ObesityHP:0001513
  • Premature birthHP:0001622
  • Relative macrocephalyHP:0004482
  • Short statureHP:0004322

Occasional (29-5%)(4)

  • CryptorchidismHP:0000028
  • PolyphagiaHP:0002591
  • ScoliosisHP:0002650
  • Type II diabetes mellitusHP:0005978

Very rare (<4-1%)(8)

  • Bifid uvulaHP:0000193
  • Clinodactyly of the 5th fingerHP:0004209
  • Decreased response to growth hormone stimulation testHP:0000824
  • Few cafe-au-lait spotsHP:0007429
  • Frontal bossingHP:0002007
  • HydrocephalusHP:0000238
  • Pointed chinHP:0000307
  • Recurrent hypoglycemiaHP:0001988