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Ocular anomalies-axonal neuropathy-developmental delay syndrome

ORPHA:496790 · Disease · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(3)

  • Axial hypotoniaHP:0008936
  • Global developmental delayHP:0001263
  • Intellectual disabilityHP:0001249

Frequent (79-30%)(6)

  • Increased circulating lactate concentrationHP:0002151
  • Lower limb amyotrophyHP:0007210
  • Peripheral axonal neuropathyHP:0003477
  • Poor speechHP:0002465
  • Spastic gaitHP:0002064
  • SpasticityHP:0001257

Occasional (29-5%)(25)

  • 3-Methylglutaconic aciduriaHP:0003535
  • CataractHP:0000518
  • Cerebellar atrophyHP:0001272
  • CryptorchidismHP:0000028
  • Deeply set eyeHP:0000490
  • Delayed pubertyHP:0000823
  • EsotropiaHP:0000565
  • Feeding difficultiesHP:0011968
  • Gait ataxiaHP:0002066
  • High foreheadHP:0000348
  • Hip dysplasiaHP:0001385
  • Hypertrophic cardiomyopathyHP:0001639
  • Long faceHP:0000276
  • Mandibular prognathiaHP:0000303
  • MicrognathiaHP:0000347
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Optic nerve hypoplasiaHP:0000609
  • Pectus carinatumHP:0000768
  • Positional foot deformityHP:0005656
  • ScoliosisHP:0002650
  • Short noseHP:0003196
  • Sleep disturbanceHP:0002360
  • Upslanted palpebral fissureHP:0000582

Very rare (<4-1%)(2)

  • Corneal opacityHP:0007957
  • SeizureHP:0001250