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CACH syndrome

ORPHA:135 · Disease · Disorder

HPO 表現型（共 55 項）

Very frequent (99-80%)(2)

  • Brain imaging abnormalityHP:0410263
  • Dysmyelinating leukodystrophyHP:0006978

Frequent (79-30%)(13)

  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • Cerebellar atrophyHP:0001272
  • Cerebellar vermis atrophyHP:0006855
  • Cerebral atrophyHP:0002059
  • HyperreflexiaHP:0001347
  • IrritabilityHP:0000737
  • Limb ataxiaHP:0002070
  • Optic atrophyHP:0000648
  • Premature ovarian insufficiencyHP:0008209
  • Progressive neurologic deteriorationHP:0002344
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • Truncal ataxiaHP:0002078

Occasional (29-5%)(39)

  • Abnormal pons morphologyHP:0007361
  • ApathyHP:0000741
  • Arthrogryposis multiplex congenitaHP:0002804
  • Atypical behaviorHP:0000708
  • BlindnessHP:0000618
  • CataractHP:0000518
  • Cognitive impairmentHP:0100543
  • Decreased fetal movementHP:0001558
  • DysarthriaHP:0001260
  • DysgyriaHP:0032398
  • DysmetriaHP:0001310
  • DysphagiaHP:0002015
  • EncephalopathyHP:0001298
  • Feeding difficultiesHP:0011968
  • Flexion contractureHP:0001371
  • Floppy infantHP:0008947
  • Globus pallidus hypointensity on susceptibility-weighted imagingHP:0033049
  • Gonadal dysgenesisHP:0000133
  • Growth delayHP:0001510
  • HeadacheHP:0002315
  • HemiparesisHP:0001269
  • HepatosplenomegalyHP:0001433
  • Intrauterine growth retardationHP:0001511
  • Lateral ventricle dilatationHP:0006956
  • MicrocephalyHP:0000252
  • MigraineHP:0002076
  • Mild global developmental delayHP:0011342
  • Motor delayHP:0001270
  • Nonketotic hyperglycinemiaHP:0008288
  • OligohydramniosHP:0001562
  • Optic neuritisHP:0100653
  • PancreatitisHP:0001733
  • Primary amenorrheaHP:0000786
  • Renal hypoplasiaHP:0000089
  • Secondary amenorrheaHP:0000869
  • Spastic diplegiaHP:0001264
  • T2 hypointense thalamusHP:0012690
  • VomitingHP:0002013
  • Widened subarachnoid spaceHP:0012704

Very rare (<4-1%)(1)

  • Progressive macrocephalyHP:0004481