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Acrocallosal syndrome

ORPHA:36 · Clinical subtype · Subtype of disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(5)

  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • HypertelorismHP:0000316
  • MacrocephalyHP:0000256
  • Postaxial hand polydactylyHP:0001162
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(4)

  • Dandy-Walker malformationHP:0001305
  • Prominent occiputHP:0000269
  • Sloping foreheadHP:0000340
  • Triphalangeal thumbHP:0001199

Occasional (29-5%)(9)

  • Abnormal clavicle morphologyHP:0000889
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Congenital diaphragmatic herniaHP:0000776
  • CryptorchidismHP:0000028
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Sensorineural hearing impairmentHP:0000407
  • Tall statureHP:0000098
  • Wide anterior fontanelHP:0000260