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Filippi syndrome

ORPHA:3255 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(14)

  • AphasiaHP:0002381
  • Clinodactyly of the 5th fingerHP:0004209
  • CryptorchidismHP:0000028
  • EcholaliaHP:0010529
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • MutismHP:0002300
  • Prominent nasal bridgeHP:0000426
  • Severe short statureHP:0003510
  • Specific learning disabilityHP:0001328
  • Underdeveloped nasal alaeHP:0000430
  • Wide nasal bridgeHP:0000431
  • Wide noseHP:0000445

Frequent (79-30%)(21)

  • Aplastic/hypoplastic toenailHP:0010624
  • Bilateral single transverse palmar creasesHP:0007598
  • Broad columellaHP:0010761
  • Broad foreheadHP:0000337
  • Clinodactyly of the 5th toeHP:0001864
  • Delayed skeletal maturationHP:0002750
  • Downslanted palpebral fissuresHP:0000494
  • Enlarged epiphysesHP:0010580
  • Frontal bossingHP:0002007
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Limb dystoniaHP:0002451
  • Limitation of joint mobilityHP:0001376
  • Optic atrophyHP:0000648
  • ParaplegiaHP:0010550
  • Prominent foreheadHP:0011220
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Small nailHP:0001792
  • SpasticityHP:0001257

Occasional (29-5%)(5)

  • Finger syndactylyHP:0006101
  • SeizureHP:0001250
  • Supernumerary nippleHP:0002558
  • Thin vermilion borderHP:0000233
  • Ventricular septal defectHP:0001629