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Craniodigital-intellectual disability syndrome

ORPHA:1514 · Malformation syndrome · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(13)

  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal hair patternHP:0010720
  • BrachycephalyHP:0000248
  • Finger syndactylyHP:0006101
  • Generalized hirsutismHP:0002230
  • Intellectual disabilityHP:0001249
  • Long eyelashesHP:0000527
  • MicrognathiaHP:0000347
  • Narrow nasal bridgeHP:0000446
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Thick eyebrowHP:0000574
  • Thick hairHP:0100874

Occasional (29-5%)(1)

  • Spina bifida occultaHP:0003298