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Donohue syndrome

ORPHA:508 · Malformation syndrome · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(8)

  • Fasting hypoglycemiaHP:0003162
  • HyperkeratosisHP:0000962
  • HypertrichosisHP:0000998
  • Insulin resistanceHP:0000855
  • Postnatal growth retardationHP:0008897
  • Postprandial hyperglycemiaHP:0011998
  • Reduced subcutaneous adipose tissueHP:0003758
  • Severe intrauterine growth retardationHP:0008846

Frequent (79-30%)(18)

  • Abdominal distentionHP:0003270
  • Acanthosis nigricansHP:0000956
  • Clitoral hypertrophyHP:0008665
  • Decreased body weightHP:0004325
  • Enlarged kidneyHP:0000105
  • Facial hypertrichosisHP:0002219
  • Failure to thriveHP:0001508
  • HepatomegalyHP:0002240
  • HyperinsulinemiaHP:0000842
  • Hypertrophic cardiomyopathyHP:0001639
  • Intellectual disabilityHP:0001249
  • Labial hypertrophyHP:0000065
  • Long penisHP:0000040
  • Overgrowth of external genitaliaHP:0003247
  • Prominent nipplesHP:0004405
  • Recurrent infantile hypoglycemiaHP:0004914
  • Severe global developmental delayHP:0011344
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(21)

  • Axial hypotoniaHP:0008936
  • Central hypothyroidismHP:0011787
  • Enlarged ovariesHP:0100879
  • HypercalciuriaHP:0002150
  • Hyperextensible skinHP:0000974
  • HypertelorismHP:0000316
  • HypokalemiaHP:0002900
  • Increased circulating aldosterone concentrationHP:0000859
  • Increased circulating renin concentrationHP:0000848
  • Large handsHP:0001176
  • Long footHP:0001833
  • Low-set earsHP:0000369
  • MegarectumHP:0025024
  • MicrocephalyHP:0000252
  • NephrocalcinosisHP:0000121
  • Pointed chinHP:0000307
  • Protruding earHP:0000411
  • Rectal prolapseHP:0002035
  • Thick vermilion borderHP:0012471
  • Thickened skinHP:0001072
  • Wide noseHP:0000445