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Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(5)

  • Aplasia/Hypoplasia of the distal phalanges of the toesHP:0010185
  • Hypoplastic fingernailHP:0001804
  • MicrocephalyHP:0000252
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322

Frequent (79-30%)(9)

  • Abnormal metacarpal morphologyHP:0005916
  • Absent toenailHP:0001802
  • AnonychiaHP:0001798
  • Camptodactyly of fingerHP:0100490
  • Hypoplastic toenailsHP:0001800
  • Postaxial foot polydactylyHP:0001830
  • Split footHP:0001839
  • Symphalangism affecting the phalanges of the handHP:0009773
  • Toe syndactylyHP:0001770