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Microcephaly-cardiomyopathy syndrome

ORPHA:2515 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(4)

  • Cognitive impairmentHP:0100543
  • Dilated cardiomyopathyHP:0001644
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252

Frequent (79-30%)(4)

  • Abnormality of the outer earHP:0000356
  • Clinodactyly of the 5th fingerHP:0004209
  • Sandal gapHP:0001852
  • Short statureHP:0004322

Occasional (29-5%)(7)

  • Abnormal retinal pigmentationHP:0007703
  • High, narrow palateHP:0002705
  • Intrauterine growth retardationHP:0001511
  • SeizureHP:0001250
  • Sloping foreheadHP:0000340
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119