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Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

ORPHA:99646 · Disease · Disorder

HPO 表現型（共 71 項）

Obligate (100%)(1)

  • D-2-hydroxyglutaric aciduriaHP:0012321

Very frequent (99-80%)(5)

  • Abnormal bone ossificationHP:0011849
  • Metaphyseal enchondromatosisHP:0005868
  • Metaphyseal irregularityHP:0003025
  • Metaphyseal wideningHP:0003016
  • Multiple enchondromatosisHP:0005701

Frequent (79-30%)(13)

  • Abnormal joint morphologyHP:0001367
  • Failure to thriveHP:0001508
  • Growth delayHP:0001510
  • Intrauterine growth retardationHP:0001511
  • Irregular vertebral endplatesHP:0003301
  • Metaphyseal chondromatosis of femurHP:0030295
  • Metaphyseal chondromatosis of radiusHP:0030296
  • Metaphyseal chondromatosis of tibiaHP:0030294
  • Metaphyseal chondromatosis of ulnaHP:0030297
  • Metaphyseal cuppingHP:0003021
  • PlatyspondylyHP:0000926
  • Short phalanx of fingerHP:0009803
  • Short statureHP:0004322

Occasional (29-5%)(52)

  • Abnormal globus pallidus morphologyHP:0002453
  • Abnormal pons morphologyHP:0007361
  • Abnormal septum pellucidum morphologyHP:0007375
  • Acute myelomonocytic leukemiaHP:0004820
  • Broad carpal bonesHP:0004242
  • Broad foreheadHP:0000337
  • Cavernous hemangiomaHP:0001048
  • Cavernous hemangioma of the faceHP:0007486
  • Cerebellar dysplasiaHP:0007033
  • Cerebral white matter atrophyHP:0012762
  • Delayed myelinationHP:0012448
  • Developmental cataractHP:0000519
  • Downslanted palpebral fissuresHP:0000494
  • Dry skinHP:0000958
  • Enlargement of the anklesHP:0003029
  • Feeding difficultiesHP:0011968
  • Generalized hypotoniaHP:0001290
  • Genu varumHP:0002970
  • Global developmental delayHP:0001263
  • Horizontal nystagmusHP:0000666
  • Hyperpigmented papuleHP:0025473
  • Intracranial cystic lesionHP:0010576
  • Irregular iliac crestHP:0003796
  • Large kneeHP:0030866
  • LaryngomalaciaHP:0001601
  • Long philtrumHP:0000343
  • Lumbar scoliosisHP:0004626
  • LymphangiomaHP:0100764
  • MacrocephalyHP:0000256
  • MacrotiaHP:0000400
  • Metaphyseal dysplasiaHP:0100255
  • Motor delayHP:0001270
  • Multiple joint contracturesHP:0002828
  • Nasogastric tube feeding in infancyHP:0011470
  • Poor suckHP:0002033
  • Recurrent pneumoniaHP:0006532
  • Respiratory distressHP:0002098
  • RetrognathiaHP:0000278
  • Secundum atrial septal defectHP:0001684
  • SepsisHP:0100806
  • Shield chestHP:0000914
  • Short neckHP:0000470
  • Skin plaqueHP:0200035
  • Subarterial ventricular septal defectHP:0011681
  • TelecanthusHP:0000506
  • Thin vermilion borderHP:0000233
  • Unilateral renal agenesisHP:0000122
  • Vascular tortuosityHP:0004948
  • VentriculomegalyHP:0002119
  • Waddling gaitHP:0002515
  • Wide intermamillary distanceHP:0006610
  • Widened cerebral subarachnoid spaceHP:0012766