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Pitt-Hopkins syndrome

ORPHA:2896 · Malformation syndrome · Disorder

HPO 表現型（共 69 項）

Very frequent (99-80%)(45)

  • Abnormal helix morphologyHP:0011039
  • Abnormal palate morphologyHP:0000174
  • Anteverted naresHP:0000463
  • AphasiaHP:0002381
  • AstigmatismHP:0000483
  • AtaxiaHP:0001251
  • Broad fingertipHP:0011300
  • Coarse facial featuresHP:0000280
  • ConstipationHP:0002019
  • Deeply set eyeHP:0000490
  • EcholaliaHP:0010529
  • EsophagitisHP:0100633
  • Failure of eruption of permanent teethHP:0006352
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Finger clinodactylyHP:0040019
  • Full cheeksHP:0000293
  • Gastroesophageal refluxHP:0002020
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hiatus herniaHP:0002036
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • Moderate intellectual disabilityHP:0002342
  • MutismHP:0002300
  • MyopiaHP:0000545
  • Narrow foreheadHP:0000341
  • Overhanging nasal tipHP:0011833
  • Pes planusHP:0001763
  • Pes valgusHP:0008081
  • Prominent nasal bridgeHP:0000426
  • Short metatarsalHP:0010743
  • Short neckHP:0000470
  • Short philtrumHP:0000322
  • Single transverse palmar creaseHP:0000954
  • Sleep disturbanceHP:0002360
  • Small handHP:0200055
  • Specific learning disabilityHP:0001328
  • Tapered fingerHP:0001182
  • Thick vermilion borderHP:0012471
  • Thickened helicesHP:0000391
  • Tooth malpositionHP:0000692
  • Upslanted palpebral fissureHP:0000582
  • Wide mouthHP:0000154

Frequent (79-30%)(12)

  • Abnormal pattern of respirationHP:0002793
  • Absent speechHP:0001344
  • AcrocyanosisHP:0001063
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Gait ataxiaHP:0002066
  • HyperventilationHP:0002883
  • Narrow footHP:0001786
  • SeizureHP:0001250
  • Sleep apneaHP:0010535
  • Small cerebral cortexHP:0002472
  • StrabismusHP:0000486
  • Triangular nasal tipHP:0000451

Occasional (29-5%)(10)

  • Aggressive behaviorHP:0000718
  • Autistic behaviorHP:0000729
  • CryptorchidismHP:0000028
  • Happy demeanorHP:0040082
  • Hypopigmented skin patchesHP:0001053
  • MicropenisHP:0000054
  • Postnatal growth retardationHP:0008897
  • ScoliosisHP:0002650
  • Self-injurious behaviorHP:0100716
  • Supernumerary nippleHP:0002558

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

  • Aganglionic megacolonHP:0002251
  • Hodgkin lymphomaHP:0012189