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  • Carnitine palmitoyltransferase II deficiency, lethal neonatal Relevant markers:
    CardiomegalyEchogenic ventricular liningLarge kidney/sPolycystic (enlarged echogenic) kidney/s
    Parents markers:
    Agenesis of corpus callosum (ACC)HypertrophyVentriculomegaly
      Involved genes:
      (gene — definition — chromosome)      		CPT2 — 1p32.3
      References:
      2001 Am J Med Genet Case report Read on PubMed
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