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Deafness-intellectual disability syndrome, Martin-Probst type

ORPHA:85321 · Malformation syndrome · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(14)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormality of the dentitionHP:0000164
  • Aplasia/Hypoplasia of the nipplesHP:0006709
  • Dental malocclusionHP:0000689
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • Moderate intellectual disabilityHP:0002342
  • Sensorineural hearing impairmentHP:0000407
  • Severe intellectual disabilityHP:0010864
  • TelecanthusHP:0000506
  • Umbilical herniaHP:0001537
  • Wide intermamillary distanceHP:0006610
  • Wide mouthHP:0000154
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(18)

  • Bifid scrotumHP:0000048
  • BlepharophimosisHP:0000581
  • CataractHP:0000518
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Hypoplasia of penisHP:0008736
  • HypothyroidismHP:0000821
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MyopiaHP:0000545
  • PancytopeniaHP:0001876
  • Renal dysplasiaHP:0000110
  • Renal hypoplasiaHP:0000089
  • Renal insufficiencyHP:0000083
  • Short statureHP:0004322
  • Telangiectasia of the skinHP:0100585
  • Thick lower lip vermilionHP:0000179