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Hereditary cryohydrocytosis with reduced stomatin

ORPHA:168577 · Disease · Disorder

HPO 表現型（共 32 項）

Frequent (79-30%)(11)

  • CataractHP:0000518
  • Global developmental delayHP:0001263
  • HepatosplenomegalyHP:0001433
  • HypoglycorrhachiaHP:0011972
  • Increased intracellular sodiumHP:0003575
  • Intellectual disabilityHP:0001249
  • JaundiceHP:0000952
  • Postnatal growth retardationHP:0008897
  • SeizureHP:0001250
  • Spontaneous hemolytic crisesHP:0005525
  • StomatocytosisHP:0004446

Occasional (29-5%)(21)

  • Abnormality of movementHP:0100022
  • AtaxiaHP:0001251
  • BrachydactylyHP:0001156
  • Broad neckHP:0000475
  • Cerebral white matter hypoplasiaHP:0012430
  • Communicating hydrocephalusHP:0001334
  • Conjugated hyperbilirubinemiaHP:0002908
  • Decreased thalamic volumeHP:0012695
  • Delayed myelinationHP:0012448
  • HypertoniaHP:0001276
  • Intracerebral periventricular calcificationsHP:0007229
  • MacrocephalyHP:0000256
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • NystagmusHP:0000639
  • Recurrent infectionsHP:0002719
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Short thoraxHP:0010306
  • Spastic paraplegiaHP:0001258
  • Zonular cataractHP:0010920