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Maternal uniparental disomy of chromosome X syndrome

ORPHA:261519 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(23)

  • Abnormality of chromosome segregationHP:0002916
  • Agenesis of corpus callosumHP:0001274
  • Camptodactyly of fingerHP:0100490
  • Congestive heart failureHP:0001635
  • Cubitus valgusHP:0002967
  • Depressed nasal bridgeHP:0005280
  • Flexion contractureHP:0001371
  • Global developmental delayHP:0001263
  • Hepatic failureHP:0001399
  • Hypopigmentation of the skinHP:0001010
  • Intellectual disabilityHP:0001249
  • Inverted nipplesHP:0003186
  • Low posterior hairlineHP:0002162
  • MicrocephalyHP:0000252
  • Predominantly lower limb lymphedemaHP:0003550
  • Primary gonadal insufficiencyHP:0008193
  • Rocker bottom footHP:0001838
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Shield chestHP:0000914
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Thin vermilion borderHP:0000233

Frequent (79-30%)(3)

  • Ambiguous genitaliaHP:0000062
  • AzoospermiaHP:0000027
  • Gonadal tissue inappropriate for external genitalia or chromosomal sexHP:0003248