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PEHO syndrome

ORPHA:2836 · Disease · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(27)

  • Abnormal palate morphologyHP:0000174
  • Abnormal pinna morphologyHP:0000377
  • Abnormal upper lip morphologyHP:0000177
  • Abnormality of eye movementHP:0000496
  • Abnormality of movementHP:0100022
  • Biparietal narrowingHP:0004422
  • Cerebral cortical atrophyHP:0002120
  • DrowsinessHP:0002329
  • EEG abnormalityHP:0002353
  • EpicanthusHP:0000286
  • Feeding difficultiesHP:0011968
  • Full cheeksHP:0000293
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • HypsarrhythmiaHP:0002521
  • Infantile spasmsHP:0012469
  • MacrotiaHP:0000400
  • Malar flatteningHP:0000272
  • Midface retrusionHP:0011800
  • Open mouthHP:0000194
  • Optic atrophyHP:0000648
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Severe muscular hypotoniaHP:0006829
  • Short noseHP:0003196
  • Tapered fingerHP:0001182
  • Visual lossHP:0000572

Frequent (79-30%)(14)

  • Anteverted naresHP:0000463
  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • Cerebellar atrophyHP:0001272
  • Flexion contractureHP:0001371
  • Gingival overgrowthHP:0000212
  • HydrocephalusHP:0000238
  • Limitation of joint mobilityHP:0001376
  • MicrocephalyHP:0000252
  • Palpebral edemaHP:0100540
  • Pedal edemaHP:0010741
  • Peripheral edemaHP:0012398
  • Porencephalic cystHP:0002132
  • Recurrent respiratory infectionsHP:0002205
  • VentriculomegalyHP:0002119

Occasional (29-5%)(1)

  • Arthrogryposis multiplex congenitaHP:0002804