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Walker-Warburg syndrome

ORPHA:899 · Disease · Disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(29)

  • Abnormal cerebellar vermis morphologyHP:0002334
  • Abnormal circulating aldolase concentrationHP:0012400
  • Abnormal circulating creatine kinase activityHP:0040081
  • Abnormal circulating lactate dehydrogenase concentrationHP:0045040
  • Abnormal cortical gyrationHP:0002536
  • Abnormal optic nerve morphologyHP:0000587
  • Abnormality of neuronal migrationHP:0002269
  • Aplasia/Hypoplasia involving the skeletal musculatureHP:0001460
  • AreflexiaHP:0001284
  • Cerebellar hypoplasiaHP:0001321
  • Chorioretinal dysplasiaHP:0007731
  • Global developmental delayHP:0001263
  • HydrocephalusHP:0000238
  • HyporeflexiaHP:0001265
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • LissencephalyHP:0001339
  • Metatarsus valgusHP:0010508
  • Muscle weaknessHP:0001324
  • Muscular dystrophyHP:0003560
  • Optic atrophyHP:0000648
  • PachygyriaHP:0001302
  • PolymicrogyriaHP:0002126
  • Retinal detachmentHP:0000541
  • Retinal dysplasiaHP:0007973
  • Retinal dystrophyHP:0000556
  • Skeletal muscle atrophyHP:0003202
  • Specific learning disabilityHP:0001328
  • VentriculomegalyHP:0002119

Frequent (79-30%)(10)

  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • AnophthalmiaHP:0000528
  • Corneal opacityHP:0007957
  • CryptorchidismHP:0000028
  • Dandy-Walker malformationHP:0001305
  • GlaucomaHP:0000501
  • Hypoplasia of penisHP:0008736
  • MacrocephalyHP:0000256
  • MicrophthalmiaHP:0000568

Occasional (29-5%)(11)

  • Bifid uvulaHP:0000193
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • Iris colobomaHP:0000612
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrocorneaHP:0000482
  • Posteriorly rotated earsHP:0000358
  • Protruding earHP:0000411
  • SeizureHP:0001250
  • Submucous cleft hard palateHP:0000176