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Galloway-Mowat syndrome

ORPHA:2065 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(7)

  • Cognitive impairmentHP:0100543
  • Global developmental delayHP:0001263
  • Hypoplasia of the ear cartilageHP:0100720
  • MicrocephalyHP:0000252
  • NephropathyHP:0000112
  • Nephrotic syndromeHP:0000100
  • ProteinuriaHP:0000093

Frequent (79-30%)(9)

  • Abnormality of neuronal migrationHP:0002269
  • EEG abnormalityHP:0002353
  • Hiatus herniaHP:0002036
  • Intrauterine growth retardationHP:0001511
  • MacrotiaHP:0000400
  • PachygyriaHP:0001302
  • Premature birthHP:0001622
  • SeizureHP:0001250
  • Short statureHP:0004322

Occasional (29-5%)(12)

  • Abnormal intervertebral disk morphologyHP:0005108
  • Abnormality of immune system physiologyHP:0010978
  • Abnormality of the dentitionHP:0000164
  • Adducted thumbHP:0001181
  • Aqueductal stenosisHP:0002410
  • Camptodactyly of fingerHP:0100490
  • Hemiplegia/hemiparesisHP:0004374
  • HypertelorismHP:0000316
  • HypertoniaHP:0001276
  • HypotelorismHP:0000601
  • HypotoniaHP:0001252
  • MicrognathiaHP:0000347