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Global developmental delay-osteopenia-ectodermal defect syndrome

ORPHA:73223 · Malformation syndrome · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(16)

  • Abnormal dermal melanosome morphologyHP:0011125
  • Abnormal temper tantrumsHP:0025160
  • Abnormality of hair textureHP:0010719
  • Aggressive behaviorHP:0000718
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Depigmentation/hyperpigmentation of skinHP:0007483
  • Epidermal thickeningHP:0011368
  • HypocalciuriaHP:0003127
  • Hypoplastic sweat glandsHP:0007387
  • ImpulsivityHP:0100710
  • Joint hypermobilityHP:0001382
  • Orthokeratotic hyperkeratosisHP:0025080
  • OsteopeniaHP:0000938
  • Short attention spanHP:0000736
  • Thickened skinHP:0001072

Frequent (79-30%)(2)

  • Delayed speech and language developmentHP:0000750
  • EEG abnormalityHP:0002353

Occasional (29-5%)(21)

  • Broad foreheadHP:0000337
  • Clinodactyly of the 2nd fingerHP:0040022
  • Clinodactyly of the 4th fingerHP:0040025
  • Conical incisorHP:0011065
  • Dental malocclusionHP:0000689
  • Dilation of Virchow-Robin spacesHP:0012520
  • EpicanthusHP:0000286
  • HyperlordosisHP:0003307
  • HypophosphaturiaHP:0012365
  • Localized hypoplasia of dental enamelHP:0011074
  • Long philtrumHP:0000343
  • Maxillary lateral incisor microdontiaHP:0001593
  • MicrognathiaHP:0000347
  • Mitral regurgitationHP:0001653
  • Prominent foreheadHP:0011220
  • Scapular wingingHP:0003691
  • SynophrysHP:0000664
  • Thick eyebrowHP:0000574
  • Thin vermilion borderHP:0000233
  • Tricuspid regurgitationHP:0005180
  • Wide nasal bridgeHP:0000431