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Pyruvate dehydrogenase deficiency

ORPHA:765 · Disease · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(5)

  • Abnormal facial shapeHP:0001999
  • Feeding difficulties in infancyHP:0008872
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • LethargyHP:0001254

Frequent (79-30%)(15)

  • Abnormal pyramidal signHP:0007256
  • Abnormality of eye movementHP:0000496
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • AtaxiaHP:0001251
  • ChoreoathetosisHP:0001266
  • DysarthriaHP:0001260
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Osteolytic defects of the middle phalanx of the 4th toeHP:0100453
  • SeizureHP:0001250
  • SpasticityHP:0001257
  • TachypneaHP:0002789
  • TremorHP:0001337

Occasional (29-5%)(15)

  • Cerebral palsyHP:0100021
  • DyspneaHP:0002094
  • DystoniaHP:0001332
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Long philtrumHP:0000343
  • Multiple lipomasHP:0001012
  • Narrow faceHP:0000275
  • Pectus excavatumHP:0000767
  • TrigonocephalyHP:0000243
  • Upslanted palpebral fissureHP:0000582
  • VentriculomegalyHP:0002119
  • Wide nasal bridgeHP:0000431