← 返回搜尋

TMEM70-related mitochondrial encephalo-cardio-myopathy

ORPHA:1194 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(10)

  • 3-Methylglutaconic aciduriaHP:0003535
  • HyperammonemiaHP:0001987
  • HypotoniaHP:0001252
  • Infectious encephalitisHP:0002383
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • Moderate global developmental delayHP:0011343
  • Moderate intellectual disabilityHP:0002342
  • OligohydramniosHP:0001562
  • Short philtrumHP:0000322

Frequent (79-30%)(17)

  • Abnormal aortic valve morphologyHP:0001646
  • Abnormal pulmonary valve morphologyHP:0001641
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Camptodactyly of fingerHP:0100490
  • Cerebral cortical atrophyHP:0002120
  • Congestive heart failureHP:0001635
  • CryptorchidismHP:0000028
  • Death in infancyHP:0001522
  • Flexion contractureHP:0001371
  • Growth delayHP:0001510
  • HepatomegalyHP:0002240
  • Hypertrophic cardiomyopathyHP:0001639
  • HypospadiasHP:0000047
  • Intrauterine growth retardationHP:0001511
  • Respiratory failureHP:0002878
  • RetrognathiaHP:0000278
  • Wide mouthHP:0000154

Occasional (29-5%)(3)

  • Abnormality of the kidneyHP:0000077
  • ArrhythmiaHP:0011675
  • SeizureHP:0001250