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Atkin-Flaitz syndrome

ORPHA:1193 · Malformation syndrome · Disorder

HPO 表現型(共 16 項)

Very frequent (99-80%)(14)

  • Abnormality of the dentitionHP:0000164
  • Anteverted naresHP:0000463
  • Broad foreheadHP:0000337
  • Broad nasal tipHP:0000455
  • Coarse facial featuresHP:0000280
  • Everted lower lip vermilionHP:0000232
  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • MacroorchidismHP:0000053
  • Maxillary lateral incisor microdontiaHP:0001593
  • ObesityHP:0001513
  • Prominent supraorbital ridgesHP:0000336
  • Short statureHP:0004322
  • Thick vermilion borderHP:0012471

Frequent (79-30%)(2)

  • HypertelorismHP:0000316
  • MacrotiaHP:0000400