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Oculocerebral hypopigmentation syndrome, Preus type

ORPHA:2720 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(14)

  • Abnormality of immune system physiologyHP:0010978
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Generalized hypopigmentationHP:0007513
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • HypertoniaHP:0001276
  • Hypochromic anemiaHP:0001931
  • Intellectual disabilityHP:0001249
  • Iris hypopigmentationHP:0007730
  • NystagmusHP:0000639
  • SeizureHP:0001250
  • Short statureHP:0004322
  • White hairHP:0011364

Frequent (79-30%)(6)

  • Abnormal brainstem morphologyHP:0002363
  • Abnormal diencephalon morphologyHP:0010662
  • Abnormality of neutrophilsHP:0001874
  • ArachnodactylyHP:0001166
  • HydrocephalusHP:0000238
  • Ocular albinismHP:0001107

Occasional (29-5%)(6)

  • Abnormal hip bone morphologyHP:0003272
  • Abnormal renal tubule morphologyHP:0000091
  • AtaxiaHP:0001251
  • CataractHP:0000518
  • PhotophobiaHP:0000613
  • Reduced bone mineral densityHP:0004349