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15q13.3 microdeletion syndrome

ORPHA:199318 · Malformation syndrome · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(2)

  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Occasional (29-5%)(19)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Attention deficit hyperactivity disorderHP:0007018
  • AutismHP:0000717
  • Bipolar affective disorderHP:0007302
  • Clinodactyly of the 5th fingerHP:0004209
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • HypotoniaHP:0001252
  • MacrocephalyHP:0000256
  • MacrotiaHP:0000400
  • Melanocytic nevusHP:0000995
  • MicrocephalyHP:0000252
  • Prominent nasal tipHP:0005274
  • Protruding earHP:0000411
  • SchizophreniaHP:0100753
  • SeizureHP:0001250
  • Short statureHP:0004322
  • StrabismusHP:0000486