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Distal duplication 17q syndrome

ORPHA:3379 · Malformation syndrome · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(2)

  • Global developmental delayHP:0001263
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(27)

  • Abnormal temporal bone morphologyHP:0009911
  • BlepharophimosisHP:0000581
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Episodic vomitingHP:0002572
  • Frontal bossingHP:0002007
  • Genu valgumHP:0002857
  • Hallux valgusHP:0001822
  • Hand polydactylyHP:0001161
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Low posterior hairlineHP:0002162
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Pectus carinatumHP:0000768
  • Pes cavusHP:0001761
  • Posteriorly rotated earsHP:0000358
  • RhizomeliaHP:0008905
  • Severe short statureHP:0003510
  • Short columellaHP:0002000
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Thin upper lip vermilionHP:0000219
  • Vesicoureteral refluxHP:0000076
  • Wide mouthHP:0000154

Occasional (29-5%)(13)

  • Abducens palsyHP:0006897
  • Abnormal heart morphologyHP:0001627
  • Accessory spleenHP:0001747
  • ArachnodactylyHP:0001166
  • Bilateral sensorineural hearing impairmentHP:0008619
  • Cerebellar hypoplasiaHP:0001321
  • HyperactivityHP:0000752
  • Joint hypermobilityHP:0001382
  • Overlapping toeHP:0001845
  • Protruding earHP:0000411
  • Renal duplicationHP:0000075
  • ScoliosisHP:0002650
  • SeizureHP:0001250