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49 Possible Causes for Autosomal Recessive and Dominant Pedigrees Described

  • Genee-Wiedemann Syndrome

    Homepage Rare diseases Search Search for a rare disease Postaxial acrofacial dysostosis Disease definition Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical[…][orpha.net]

  • Muscular Dystrophy

    Rudenskaya et al. (1994) described Emery-Dreifuss muscular dystrophy in 4 generations of a family and concluded that the inheritance was autosomal dominant, but the pedigree[web.archive.org] Inheritance Emery-Dreifuss muscular dystrophy-1 is inherited as an X-linked recessive disorder.[web.archive.org]

  • Non-Syndromic Ocular Stickler Syndrome Type 1 

    dominant, autosomal recessive, X linked recessive, and mitochondrial inheritance have all been described. 2 This family pedigree is not consistent with autosomal recessive[jmg.bmj.com] dominant locus distinct from EVR1, EVR3, and EVR4. [51] Autosomal recessive pedigrees have also been described; however, an underlying genetic defect has not been determined[doctorlib.info] […] cardiac myocyte genes, such as the cyclic AMP response element binding protein ( CREB ). 1 While the vast majority of familial forms of dilated cardiomyopathy appear to be autosomal[jmg.bmj.com]

  • Dilated Cardiomyopathy Type 2B

    dominant, autosomal recessive, X linked recessive, and mitochondrial inheritance have all been described. 2 This family pedigree is not consistent with autosomal recessive[jmg.bmj.com] […] cardiac myocyte genes, such as the cyclic AMP response element binding protein ( CREB ). 1 While the vast majority of familial forms of dilated cardiomyopathy appear to be autosomal[jmg.bmj.com]

  • Chronic Daily Headaches

    Some studies have suggested an autosomal dominant way with incomplete penetrance [ 37 ], while other described an autosomal recessive transmission [ 38 ].[doi.org] So far, no X-linked pedigrees have been published. No susceptibility locus has been identified.[doi.org]

  • Cluster Headache

    Some studies have suggested an autosomal dominant way with incomplete penetrance [ 37 ], while other described an autosomal recessive transmission [ 38 ].[ncbi.nlm.nih.gov] So far, no X-linked pedigrees have been published. No susceptibility locus has been identified.[ncbi.nlm.nih.gov]

  • Ectopia Lentis

    The two family pedigrees demonstrate an autosomal recessive inheritance in contrast to the majority of reported family pedigrees with this condition which show dominant inheritance[ncbi.nlm.nih.gov] We postulated autosomal recessive inheritance in a pseudo-dominant pedigree. A few isolated reports of similar cases are scattered in the world literature.[ncbi.nlm.nih.gov] Nineteen patients with bilateral ectopia lentis and no other ocular abnormalities in two Arab families are described.[ncbi.nlm.nih.gov]

  • Amyotrophic Lateral Sclerosis

    Families with ALS frequently show autosomal dominant transmission, although autosomal recessive pedigrees are also described.[doi.org]

  • Sphenopalatine Neuralgia

    Some studies have suggested an autosomal dominant way with incomplete penetrance [ 37 ], while other described an autosomal recessive transmission [ 38 ].[ojrd.biomedcentral.com] So far, no X-linked pedigrees have been published. No susceptibility locus has been identified.[ojrd.biomedcentral.com]

  • Swyer-James Syndrome

    The pedigree pattern was equally consistent with X-linked recessive or autosomal dominant inheritance.[lymphedemapeople.com] Families such as that of Barr et al. (1967) described above may indicate that the mutation is 'leaky.'[lymphedemapeople.com]

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