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Curry-Jones syndrome

ORPHA:1553 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(3)

  • Finger syndactylyHP:0006101
  • HypertelorismHP:0000316
  • Hypopigmented skin patchesHP:0001053

Frequent (79-30%)(12)

  • Abnormality of thumb phalanxHP:0009602
  • Agenesis of corpus callosumHP:0001274
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Broad thumbHP:0011304
  • CraniosynostosisHP:0001363
  • Facial asymmetryHP:0000324
  • Foot polydactylyHP:0001829
  • Generalized hirsutismHP:0002230
  • Intellectual disabilityHP:0001249
  • MicrophthalmiaHP:0000568
  • Toe syndactylyHP:0001770
  • VentriculomegalyHP:0002119

Occasional (29-5%)(4)

  • Intestinal malrotationHP:0002566
  • Iris colobomaHP:0000612
  • Optic disc colobomaHP:0000588
  • Preaxial hand polydactylyHP:0001177