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4 Possible Causes for Highly Variable Phenotype - Ranging from Asymptomatic to Severe

  • Short Chain Acyl CoA Dehydrogenase Deficiency

    To determine an underlying genetic defect within the differential diagnosis of congenital multicore myopathy. A 13.5-year-old girl presented with congenital-onset facial and neck weakness, slowly progressive severe limb girdle and axial myopathy, respiratory weakness, cardiomyopathy, progressive joint contractures,[…][ncbi.nlm.nih.gov]

  • 22q11.2 Duplication Syndrome

    BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum[…][ncbi.nlm.nih.gov]

  • Multiple Carboxylase Deficiency

    The phenotype ranges from neonatal onset with severe neurological involvement and even lethal cases[ 19 – 21 ] to asymptomatic adults[ 3, 6, 11, 22 ].[ojrd.biomedcentral.com] The clinical picture of MCC deficiency is heterogeneous and often highly variable even within the same family[ 10, 18 ].[ojrd.biomedcentral.com]

  • Acetyl-CoA Carboxylase Deficiency

    The phenotype ranges from neonatal onset with severe neurological involvement and even lethal cases[ 19 – 21 ] to asymptomatic adults[ 3 , 6 , 11 , 22 ].[ojrd.biomedcentral.com] The clinical picture of MCC deficiency is heterogeneous and often highly variable even within the same family[ 10 , 18 ].[ojrd.biomedcentral.com]

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