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Inverted duplicated chromosome 15 syndrome

ORPHA:3306 · Malformation syndrome · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(4)

  • Autistic behaviorHP:0000729
  • DroolingHP:0002307
  • Generalized hypotoniaHP:0001290
  • Joint hypermobilityHP:0001382

Frequent (79-30%)(9)

  • EcholaliaHP:0010529
  • Feeding difficultiesHP:0011968
  • HyperactivityHP:0000752
  • Motor stereotypyHP:0000733
  • Neurodevelopmental delayHP:0012758
  • SeizureHP:0001250
  • Self-bitingHP:0012169
  • Severe expressive language delayHP:0006863
  • Severe receptive language delayHP:0011352

Occasional (29-5%)(19)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal brain morphologyHP:0012443
  • Abnormal facial shapeHP:0001999
  • Aggressive behaviorHP:0000718
  • BrachycephalyHP:0000248
  • BrachydactylyHP:0001156
  • Broad nasal tipHP:0000455
  • Clinodactyly of the 5th fingerHP:0004209
  • Deeply set eyeHP:0000490
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Growth delayHP:0001510
  • High palateHP:0000218
  • HypogonadismHP:0000135
  • MicrocephalyHP:0000252
  • Posteriorly rotated earsHP:0000358
  • Short philtrumHP:0000322
  • StrabismusHP:0000486
  • SynophrysHP:0000664

Very rare (<4-1%)(8)

  • CryptorchidismHP:0000028
  • Gonadal dysgenesisHP:0000133
  • HerniaHP:0100790
  • Precocious pubertyHP:0000826
  • Talipes equinovarusHP:0001762
  • Tetralogy of FallotHP:0001636
  • Unilateral renal agenesisHP:0000122
  • Ventricular septal defectHP:0001629

Excluded (0%)(1)

  • Frontal bossingHP:0002007