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Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

ORPHA:293987 · Disease · Disorder

HPO 表現型（共 67 項）

Very frequent (99-80%)(29)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal midbrain morphologyHP:0002418
  • Abnormality of the hypothalamus-pituitary axisHP:0000864
  • Anteverted naresHP:0000463
  • Autistic behaviorHP:0000729
  • Central hypothyroidismHP:0011787
  • Central hypoventilationHP:0007110
  • CyanosisHP:0000961
  • Decreased lacrimationHP:0000633
  • Decreased response to growth hormone stimulation testHP:0000824
  • Depressed nasal bridgeHP:0005280
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Feeding difficultiesHP:0011968
  • Gonadotropin deficiencyHP:0008213
  • HyperglycemiaHP:0003074
  • HyperlipidemiaHP:0003077
  • HypertelorismHP:0000316
  • HypohidrosisHP:0000966
  • HyponatremiaHP:0002902
  • HypoventilationHP:0002791
  • MacrocephalyHP:0000256
  • Moderate intellectual disabilityHP:0002342
  • ObesityHP:0001513
  • PolyphagiaHP:0002591
  • Premature adrenarcheHP:0012412
  • Prominent foreheadHP:0011220
  • Reduced social responsivenessHP:0012760
  • Sensorineural hearing impairmentHP:0000407
  • Widened subarachnoid spaceHP:0012704

Frequent (79-30%)(22)

  • Abnormal pupillary light reflexHP:0007695
  • Accelerated skeletal maturationHP:0005616
  • Adrenocorticotropic hormone deficiencyHP:0011748
  • Aggressive behaviorHP:0000718
  • AsthmaHP:0002099
  • Central diabetes insipidusHP:0000863
  • Developmental regressionHP:0002376
  • Everted lower lip vermilionHP:0000232
  • FeverHP:0001945
  • GanglioneuroblastomaHP:0006747
  • GanglioneuromaHP:0003005
  • Gastrointestinal dysmotilityHP:0002579
  • Global developmental delayHP:0001263
  • HypothermiaHP:0002045
  • Impaired pain sensationHP:0007328
  • Increased circulating prolactin concentrationHP:0000870
  • Obstructive sleep apneaHP:0002870
  • PolydipsiaHP:0001959
  • Recurrent lower respiratory tract infectionsHP:0002783
  • Recurrent upper respiratory tract infectionsHP:0002788
  • ScoliosisHP:0002650
  • Short statureHP:0004322

Occasional (29-5%)(14)

  • BrachydactylyHP:0001156
  • Cardiorespiratory arrestHP:0006543
  • Celiac diseaseHP:0002608
  • Compulsive behaviorsHP:0000722
  • Delayed pubertyHP:0000823
  • DepressionHP:0000716
  • Emotional labilityHP:0000712
  • EnuresisHP:0000805
  • Generalized hypotoniaHP:0001290
  • Infectious encephalitisHP:0002383
  • NarcolepsyHP:0030050
  • PsychosisHP:0000709
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716

Excluded (0%)(2)

  • AnxietyHP:0000739
  • HyperkalemiaHP:0002153