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Spinocerebellar ataxia-dysmorphism syndrome

ORPHA:1185 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(21)

  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Broad foreheadHP:0000337
  • Coarse hairHP:0002208
  • Cubitus valgusHP:0002967
  • DolichocephalyHP:0000268
  • Downturned corners of mouthHP:0002714
  • EMG abnormalityHP:0003457
  • EpicanthusHP:0000286
  • Genu recurvatumHP:0002816
  • Global developmental delayHP:0001263
  • Hyperextensible skinHP:0000974
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • NystagmusHP:0000639
  • ProptosisHP:0000520
  • PtosisHP:0000508
  • Reduced bone mineral densityHP:0004349
  • Short noseHP:0003196
  • Slender long boneHP:0003100
  • Thick vermilion borderHP:0012471

Frequent (79-30%)(5)

  • MacrocephalyHP:0000256
  • Optic atrophyHP:0000648
  • Posteriorly rotated earsHP:0000358
  • Short statureHP:0004322
  • Spina bifida occultaHP:0003298