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120 Possible Causes for Possible Autosomal Dominant and Autosomal Recessive Forms

  • Cardiomyopathy

    dominant inheritance, with incomplete penetrance; possible autosomal recessive inheritance; rare forms associated with typical phenotype (eg, Naxos disease) Unclassified[clevelandclinicmeded.com] […] fibrosis Arrhythmogenic right ventricular cardiomyopathy Fibrofatty replacement of right ventricular myocardium, Uhl's anomaly (parchment heart) Unknown; familial, usually autosomal[clevelandclinicmeded.com]

  • Pterygium

    The father shows limited symptoms, which has been reported before in the autosomal dominant form of MPS.[ncbi.nlm.nih.gov] However, it is also possible that he is showing a heterozygous state of the autosomal recessive form of MPS.[ncbi.nlm.nih.gov]

  • Retinitis Pigmentosa

    , autosomal recessive or X-linked.[contact.org.uk] Inheritance patterns and prenatal diagnosis Inheritance patterns For RP inheritance may be autosomal dominant, autosomal recessive or Inheritance of RP may be autosomal dominant[contact.org.uk] Affected families should be referred to a genetics centre for information and support Prenatal diagnosis Prenatal diagnosis is now possible in some forms of RP and other inherited[contact.org.uk]

  • Dilated Cardiomyopathy

    dominant inheritance, with incomplete penetrance; possible autosomal recessive inheritance; rare forms associated with typical phenotype (eg, Naxos disease) Unclassified[clevelandclinicmeded.com] […] fibrosis Arrhythmogenic right ventricular cardiomyopathy Fibrofatty replacement of right ventricular myocardium, Uhl's anomaly (parchment heart) Unknown; familial, usually autosomal[clevelandclinicmeded.com]

  • Dilated Cardiomyopathy Type 2B

    dominant inheritance, with incomplete penetrance; possible autosomal recessive inheritance; rare forms associated with typical phenotype (eg, Naxos disease) Unclassified[clevelandclinicmeded.com] […] fibrosis Arrhythmogenic right ventricular cardiomyopathy Fibrofatty replacement of right ventricular myocardium, Uhl's anomaly (parchment heart) Unknown; familial, usually autosomal[clevelandclinicmeded.com]

  • Familial Isolated Dilated Cardiomyopathy

    dominant inheritance, with incomplete penetrance; possible autosomal recessive inheritance; rare forms associated with typical phenotype (eg, Naxos disease) Unclassified[clevelandclinicmeded.com] […] fibrosis Arrhythmogenic right ventricular cardiomyopathy Fibrofatty replacement of right ventricular myocardium, Uhl's anomaly (parchment heart) Unknown; familial, usually autosomal[clevelandclinicmeded.com]

  • Orchitis and Epididymitis

    Genetic counseling These conditions can be inherited as autosomal recessive, dominant or X-linked traits with the most severe forms being autosomal recessive.[orpha.net] Antenatal diagnosis Antenatal diagnosis is possible if the mutations causing the condition in the family are known.[orpha.net]

  • Paraparesis

    Genetic counseling Patterns of inheritance include mostly autosomal dominant and autosomal recessive, and rarely X-linked and mitochondrial.[orpha.net] Antenatal diagnosis Genetic testing is possible where a mutation has previously been identified in a family.[orpha.net] In addition, multiple recessive and dominant forms exist for the genes KIF1C (17p13.2), REEP2 (5q31.2), ALDH18A1 (10q24.1), ERLIN2 (8p11.23).[orpha.net]

  • Ischemic Cardiomyopathy

    dominant inheritance, with incomplete penetrance; possible autosomal recessive inheritance; rare forms associated with typical phenotype (eg, Naxos disease) Unclassified[clevelandclinicmeded.com] […] fibrosis Arrhythmogenic right ventricular cardiomyopathy Fibrofatty replacement of right ventricular myocardium, Uhl's anomaly (parchment heart) Unknown; familial, usually autosomal[clevelandclinicmeded.com]

  • CANOMAD Syndrome

    HSMN - I (Charcot-Marie-Tooth disease type 1 or adult-onset demyelinating): The age of onset of this mostly autosomal dominant (autosomal recessive, and X-linked forms exist[neuroweb.us] With the availability of genetic testing, noninvasive accurate diagnosis is now possible and omits the need for nerve biopsies.[neuroweb.us]

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