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Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

ORPHA:466688 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Frequent (79-30%)(22)

  • Absent speechHP:0001344
  • Agenesis of corpus callosumHP:0001274
  • Anteverted naresHP:0000463
  • Cerebellar vermis hypoplasiaHP:0001320
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Highly arched eyebrowHP:0002553
  • HirsutismHP:0001007
  • HypertoniaHP:0001276
  • Limb hypertoniaHP:0002509
  • Long eyelashesHP:0000527
  • Low anterior hairlineHP:0000294
  • MicrocephalyHP:0000252
  • Narrow foreheadHP:0000341
  • Nonprogressive cerebellar ataxiaHP:0002470
  • Palpebral edemaHP:0100540
  • Posteriorly rotated earsHP:0000358
  • Primary microcephalyHP:0011451
  • Severe intellectual disabilityHP:0010864
  • StrabismusHP:0000486
  • Thick eyebrowHP:0000574
  • Thick lower lip vermilionHP:0000179

Occasional (29-5%)(1)

  • Poor speechHP:0002465