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Autosomal recessive distal osteolysis syndrome

ORPHA:2776 · Malformation syndrome · Disorder

HPO 表現型(共 9 項)

Very frequent (99-80%)(9)

  • Abnormality of the dentitionHP:0000164
  • Broad nasal tipHP:0000455
  • Hypoplasia of the maxillaHP:0000327
  • Midface retrusionHP:0011800
  • Mild intellectual disabilityHP:0001256
  • OsteolysisHP:0002797
  • ProptosisHP:0000520
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322