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Proximal 16p11.2 microduplication syndrome

ORPHA:370079 · Malformation syndrome · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(21)

  • Abnormal basal ganglia MRI signal intensityHP:0012751
  • ArachnodactylyHP:0001166
  • Decreased body mass indexHP:0045082
  • Deeply set eyeHP:0000490
  • Delayed speech and language developmentHP:0000750
  • Failure to thriveHP:0001508
  • Flat faceHP:0012368
  • HypertelorismHP:0000316
  • HyporeflexiaHP:0001265
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • MicrotiaHP:0008551
  • Motor delayHP:0001270
  • Short statureHP:0004322
  • Smooth philtrumHP:0000319
  • Sparse eyebrowHP:0045075
  • Sparse eyelashesHP:0000653
  • Speech articulation difficultiesHP:0009088
  • Thin upper lip vermilionHP:0000219
  • TremorHP:0001337

Frequent (79-30%)(6)

  • Abnormal visual accommodationHP:0030800
  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • Autistic behaviorHP:0000729
  • Compulsive behaviorsHP:0000722
  • Global developmental delayHP:0001263

Occasional (29-5%)(9)

  • Abnormality of the hairlineHP:0009553
  • AutismHP:0000717
  • Bipolar affective disorderHP:0007302
  • Congenital diaphragmatic herniaHP:0000776
  • Frontal bossingHP:0002007
  • SchizophreniaHP:0100753
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Underdeveloped supraorbital ridgesHP:0009891

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

  • HemivertebraeHP:0002937
  • MicropenisHP:0000054