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75 Possible Causes for Autosomal Recessive Inheritance: More Severe Phenotype

  • Distal Hereditary Motor Neuropathy Type 1

    Inheritance is usually autosomal recessive with some dominant inheritance linked to EGR2. Autosomal-recessive CMT4 is relatively rare.[academlib.com] Individuals with CMT 3 (Dejerine-Sottas disease) have a primarily demyelinating peripheral neuropathy with a more severe phenotype presenting in infancy.[academlib.com] Most are demyelinating with more severe phenotypes and onset is often in childhood. CMT 4C linked to 5q23 is a relatively more common form of CMT 4.[academlib.com]

  • Familial Short QT Syndrome

    LQTS can be inherited in an autosomal dominant or in an autosomal recessive manner.[medcraveonline.com] The autosomal recessive forms of Long QT Syndrome have a propensity to have a more severe phenotype, with some variants having associated syndactyly (Long QT 8) or congenital[medcraveonline.com]

  • Long QT Syndrome

    The autosomal recessive forms of LQTS tend to have a more severe phenotype.[en.wikipedia.org] The condition is most commonly inherited in an autosomal dominant manner, or rarely in an autosomal recessive fashion.[en.wikipedia.org]

  • Ventricular Arrhythmia

    The autosomal recessive forms of LQTS tend to have a more severe phenotype.[en.wikipedia.org] The condition is most commonly inherited in an autosomal dominant manner, or rarely in an autosomal recessive fashion.[en.wikipedia.org]

  • Multiple Sclerosis

    The ARSB mutation is inherited as an autosomal recessive disorder.[rarediseases.org] Certain mutations are more likely to be associated with specific symptoms and/or severity (genotype-phenotype correlation).[rarediseases.org]

  • Mycoplasma Pneumonia

    The ARSB mutation is inherited as an autosomal recessive disorder.[rarediseases.org] Certain mutations are more likely to be associated with specific symptoms and/or severity (genotype-phenotype correlation).[rarediseases.org]

  • Atrial Tachyarrhythmia with Short PR Interval

    LQTS can be inherited in an autosomal dominant or in an autosomal recessive manner.[medcraveonline.com] The autosomal recessive forms of Long QT Syndrome have a propensity to have a more severe phenotype, with some variants having associated syndactyly (Long QT 8) or congenital[medcraveonline.com]

  • Lytic Bone Lesion

    It has autosomal dominant inheritance and suggested autosomal recessive and X-linked inheritance. [11] It has a male predominance who usually show a more severe phenotype[emedicine.medscape.com]

  • Hereditary Motor and Sensory Neuropathy

    Inheritance is usually autosomal recessive with some dominant inheritance linked to EGR2. Autosomal-recessive CMT4 is relatively rare.[academlib.com] Individuals with CMT 3 (Dejerine-Sottas disease) have a primarily demyelinating peripheral neuropathy with a more severe phenotype presenting in infancy.[academlib.com] Most are demyelinating with more severe phenotypes and onset is often in childhood. CMT 4C linked to 5q23 is a relatively more common form of CMT 4.[academlib.com]

  • Oculo-Pharyngo-Distal Myopathy

    Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe ( Filosto et al., 2003 ; Luoma et al., 2004 )[mendelian.co] .PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes ( Lamantea et al[mendelian.co]

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