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Maternal uniparental disomy of chromosome 4 syndrome

ORPHA:96180 · Malformation syndrome · Disorder

HPO 表現型（共 39 項）

Frequent (79-30%)(34)

  • AbetalipoproteinemiaHP:0008181
  • Abnormal erythrocyte morphologyHP:0001877
  • Abnormality of the nervous systemHP:0000707
  • AcanthocytosisHP:0001927
  • AtaxiaHP:0001251
  • Calf muscle pseudohypertrophyHP:0003707
  • Chaddock reflexHP:0010875
  • Decreased body weightHP:0004325
  • Decreased circulating LDL-C concentrationHP:0003563
  • Decreased circulating vitamin E concentrationHP:0100513
  • Decreased circulating vitamin K concentrationHP:0011892
  • Delayed speech and language developmentHP:0000750
  • DepressionHP:0000716
  • DiarrheaHP:0002014
  • DysmetriaHP:0001310
  • Elevated circulating creatine kinase activityHP:0003236
  • Fat malabsorptionHP:0002630
  • HypocholesterolemiaHP:0003146
  • HypofibrinogenemiaHP:0011900
  • Hyporeflexia of lower limbsHP:0002600
  • Impaired proprioceptionHP:0010831
  • Impaired vibratory sensationHP:0002495
  • Intellectual disabilityHP:0001249
  • Limb-girdle muscular dystrophyHP:0006785
  • MalnutritionHP:0004395
  • Neck flexor weaknessHP:0003722
  • NyctalopiaHP:0000662
  • Pigmentary retinopathyHP:0000580
  • Postnatal growth retardationHP:0008897
  • Reduced circulating vitamin A concentrationHP:0004905
  • Rod-cone dystrophyHP:0000510
  • Short statureHP:0004322
  • Spastic gaitHP:0002064
  • Visual field defectHP:0001123

Very rare (<4-1%)(5)

  • Diabetes insipidusHP:0000873
  • Neurogenic bladderHP:0000011
  • Optic atrophyHP:0000648
  • Sensorineural hearing impairmentHP:0000407
  • Type I diabetes mellitusHP:0100651