← 返回搜尋

Menkes disease

ORPHA:565 · Disease · Disorder

HPO 表現型（共 55 項）

Very frequent (99-80%)(22)

  • Abnormal palate morphologyHP:0000174
  • Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
  • Developmental regressionHP:0002376
  • Dry skinHP:0000958
  • FatigueHP:0012378
  • Feeding difficulties in infancyHP:0008872
  • HerniaHP:0100790
  • Hyperextensible skinHP:0000974
  • HypertoniaHP:0001276
  • Hypopigmentation of hairHP:0005599
  • HypotoniaHP:0001252
  • Inguinal herniaHP:0000023
  • Intracranial hemorrhageHP:0002170
  • Joint hypermobilityHP:0001382
  • MicrocephalyHP:0000252
  • Pectus excavatumHP:0000767
  • SeizureHP:0001250
  • Sparse hairHP:0008070
  • SpasticityHP:0001257
  • Umbilical herniaHP:0001537
  • Vascular dilatationHP:0002617
  • Woolly hairHP:0002224

Frequent (79-30%)(19)

  • Abnormal carotid artery morphologyHP:0005344
  • Abnormal metaphysis morphologyHP:0000944
  • Arterial stenosisHP:0100545
  • Atypical behaviorHP:0000708
  • Atypical scarring of skinHP:0000987
  • ExostosesHP:0100777
  • Full cheeksHP:0000293
  • Intellectual disabilityHP:0001249
  • MalabsorptionHP:0002024
  • Mask-like faciesHP:0000298
  • MicrognathiaHP:0000347
  • Muscle weaknessHP:0001324
  • Narrow chestHP:0000774
  • Nausea and vomitingHP:0002017
  • Prolonged neonatal jaundiceHP:0006579
  • Prominent occiputHP:0000269
  • Thickened skinHP:0001072
  • Venous insufficiencyHP:0005293
  • Wormian bonesHP:0002645

Occasional (29-5%)(14)

  • Bladder diverticulumHP:0000015
  • Bowing of the long bonesHP:0006487
  • ChondrocalcinosisHP:0000934
  • ChoreaHP:0002072
  • Gastrointestinal hemorrhageHP:0002239
  • HypoglycemiaHP:0001943
  • HypothermiaHP:0002045
  • Intrauterine growth retardationHP:0001511
  • OsteomyelitisHP:0002754
  • OsteoporosisHP:0000939
  • Recurrent fracturesHP:0002757
  • SepsisHP:0100806
  • Spontaneous hematomasHP:0007420
  • Tarsal synostosisHP:0008368