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Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

ORPHA:324540 · Malformation syndrome · Disorder

HPO 表現型（共 35 項）

Frequent (79-30%)(32)

  • Bilateral ptosisHP:0001488
  • Broad thumbHP:0011304
  • Downslanted palpebral fissuresHP:0000494
  • Duplication of distal phalanx of toeHP:0010193
  • Duplication of phalanx of halluxHP:0010066
  • Feeding difficultiesHP:0011968
  • Flexion contracture of the 2nd fingerHP:0009537
  • Full cheeksHP:0000293
  • Hallux valgusHP:0001822
  • Hypoplastic labia majoraHP:0000059
  • Intrauterine growth retardationHP:0001511
  • Inverted nipplesHP:0003186
  • Joint contracture of the 5th fingerHP:0009183
  • Laryngeal stenosisHP:0001602
  • Long eyelashesHP:0000527
  • Long palpebral fissureHP:0000637
  • Loss of voiceHP:0001686
  • MicrodontiaHP:0000691
  • Narrow mouthHP:0000160
  • Optic atrophyHP:0000648
  • Posteriorly rotated earsHP:0000358
  • Retinal dystrophyHP:0000556
  • Sensorineural hearing impairmentHP:0000407
  • Severe intellectual disabilityHP:0010864
  • Short nailHP:0001799
  • StrabismusHP:0000486
  • Tapered fingerHP:0001182
  • Thick eyebrowHP:0000574
  • Thick vermilion borderHP:0012471
  • Thumb contractureHP:0009600
  • Unilateral vocal cord paralysisHP:0008757
  • Widely spaced teethHP:0000687

Occasional (29-5%)(3)

  • Bifid scrotumHP:0000048
  • Hypoplastic labia minoraHP:0000064
  • Small scrotumHP:0000046