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MOGS-CDG

ORPHA:79330 · Disease · Disorder

HPO 表現型（共 44 項）

Frequent (79-30%)(12)

  • Abnormal facial shapeHP:0001999
  • Decreased circulating IgA concentrationHP:0002720
  • Decreased circulating IgM concentrationHP:0002850
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • External genital hypoplasiaHP:0003241
  • Floppy infantHP:0008947
  • HirsutismHP:0001007
  • Long eyelashesHP:0000527
  • RetrognathiaHP:0000278
  • SeizureHP:0001250
  • Short palpebral fissureHP:0012745
  • Wide noseHP:0000445

Occasional (29-5%)(32)

  • Abnormality of visual evoked potentialsHP:0000649
  • Absent brainstem auditory responsesHP:0004463
  • AlopeciaHP:0001596
  • ApneaHP:0002104
  • Atrial septal defectHP:0001631
  • Bone fractureHP:0020110
  • CardiomegalyHP:0001640
  • Chronic constipationHP:0012450
  • Decreased circulating IgG concentrationHP:0004315
  • DystoniaHP:0001332
  • EdemaHP:0000969
  • Fair hairHP:0002286
  • Generalized edemaHP:0007430
  • HepatomegalyHP:0002240
  • HepatosplenomegalyHP:0001433
  • High palateHP:0000218
  • Hydrocele testisHP:0000034
  • Hypoplasia of the corpus callosumHP:0002079
  • HypothyroidismHP:0000821
  • HypoventilationHP:0002791
  • Inappropriate antidiuretic hormone secretionHP:0031218
  • Left ventricular hypertrophyHP:0001712
  • Nasogastric tube feedingHP:0040288
  • Optic atrophyHP:0000648
  • Overlapping fingersHP:0010557
  • PolyhydramniosHP:0001561
  • Prominent occiputHP:0000269
  • Pulmonary edemaHP:0100598
  • Respiratory distressHP:0002098
  • Sensorineural hearing impairmentHP:0000407
  • Thoracic scoliosisHP:0002943
  • ThrombocytopeniaHP:0001873