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1q44 microdeletion syndrome

ORPHA:238769 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(8)

  • Agenesis of corpus callosumHP:0001274
  • Bilateral tonic-clonic seizureHP:0002069
  • Delayed speech and language developmentHP:0000750
  • Exaggerated cupid's bowHP:0002263
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Severe intellectual disabilityHP:0010864
  • Thin vermilion borderHP:0000233

Frequent (79-30%)(12)

  • Abnormal cardiac septum morphologyHP:0001671
  • EpicanthusHP:0000286
  • Growth delayHP:0001510
  • HypertelorismHP:0000316
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Short statureHP:0004322
  • Smooth philtrumHP:0000319
  • StrabismusHP:0000486
  • TelecanthusHP:0000506
  • Upslanted palpebral fissureHP:0000582
  • VentriculomegalyHP:0002119

Occasional (29-5%)(13)

  • Biparietal narrowingHP:0004422
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348
  • High palateHP:0000218
  • Horseshoe kidneyHP:0000085
  • HydrocephalusHP:0000238
  • Intestinal malrotationHP:0002566
  • Optic disc hypoplasiaHP:0007766
  • Preauricular skin tagHP:0000384
  • Prominent metopic ridgeHP:0005487
  • ScoliosisHP:0002650
  • SynophrysHP:0000664
  • Vesicoureteral refluxHP:0000076