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389 Possible Causes for Autosomal Recessive Inheritance Has Been Suggested

  • Nivelon-Nivelon-Mabille Syndrome

    An autosomal recessive inheritance has been suggested.[ncbi.nlm.nih.gov] ORPHA:1422 Synonym(s): Nivelon-Nivelon-Mabille syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal, Antenatal ICD-10: Q87.1 OMIM: 600092 UMLS: C1838654[orpha.net] Autosomal recessive inheritance has been suggested. The first sibling had normal female internal and external genitalia, whereas the karyotype was 46,XY.[accessanesthesiology.mhmedical.com]

  • Young Simpson Syndrome

    Autosomal recessive inheritance has been suggested.[orpha.net] Autosomal recessive inheritance has been suggested. The evolution of cognitive, adaptive and behavioral characteristics is still unclear.[medigoo.com] Less than 20 cases have been reported so far. Cryptorchidism is present in affected males.[orpha.net]

  • Neuropathy

    […] cloned for HSAN types III and IV and autosomal recessive inheritance demonstrated.[ncbi.nlm.nih.gov] For type HSAN type II, new information is available suggesting that this disorder has a similar autosomal recessive inheritance.[ncbi.nlm.nih.gov] […] insensitivity to pain with partial anhidrosis V NK NK NTRK1 Congenital autonomic dysfunction with universal pain loss (CAD) NK NK Progressive panneuropathy NK NK The genes have been[ncbi.nlm.nih.gov]

  • Histiocytoid Cardiomyopathy

    In familial cases (5% of reported patients), inheritance appears to be autosomal recessive but X-linked transmission has also been suggested in patients with the association[rarediseases.info.nih.gov] been identified.[rarediseases.info.nih.gov] […] largely suspected to be caused by a developmental anomaly of the conduction system, however, a mtDNA mutation in the gene encoding mitochondrial cytochrome b ( MT-CYB ) has[rarediseases.info.nih.gov]

  • Boucher-Neuhauser Syndrome

    Genetics Autosomal recessive inheritance has been suggested on the basis of consanguinity in three families, multiple affected sibs born to normal parents, and a 1:1 sex ratio[disorders.eyes.arizona.edu]

  • Acrocallosal Syndrome

    Although autosomal recessive inheritence has been suggested, ACLS often appears to occur sporadically.[ncbi.nlm.nih.gov] Although autosomal recessive inheritance has been suggested, acrocallosal syndrome often appears to occur randomly for unknown reasons (sporadically).[metrohealth.net] Although autosomal recessive inheritance has been suggested, acrocallosal syndrome often appears to occur randomly for unknown reasons (sporadically). 3 Reply[dailyrounds.org]

  • Lynch Syndrome

    , MUTYH -associated polyposis (MAP), has been identified.[cancer.gov] Almost all pathogenic variants known to cause a predisposition to CRC are inherited in an autosomal dominant fashion.[ 37 ] One example of autosomal recessive inheritance[cancer.gov] Thus, the family characteristics that suggest autosomal dominant inheritance of cancer predisposition are important indicators of high risk and of the possible presence of[cancer.gov]

  • Familial Adenomatous Polyposis

    MUTYH -associated polyposis (MAP), has been identified.[cancer.gov] Almost all pathogenic variants known to cause a predisposition to CRC are inherited in an autosomal dominant fashion.[ 37 ] One example of autosomal recessive inheritance,[cancer.gov] Thus, the family characteristics that suggest autosomal dominant inheritance of cancer predisposition are important indicators of high risk and of the possible presence of[cancer.gov]

  • Microtia

    […] entities that have an autosomal dominant, autosomal recessive, multifactorial pattern of inheritance as well as alterations in the number of copies of potential genes involved[elsevier.es] These genes codify for transcription factors and a mutation in the HOXA2 gene has been demonstrated. 10 Accordingly, the etiology of microtia-atresia has been related with[elsevier.es] , as suggested by its presence in trisomies 13, 18 and 21, and other unbalanced chromosomal alterations (for example, in the partial deletions of 5p, 18p, 18q and 22q11.2)[elsevier.es]

  • Humero-Radial Synostosis

    Based on parental consanguinity, autosomal recessive inheritance has been suggested.[rrnursingschool.biz] , [5], [6], [7] Autosomal recessive inheritance has been suggested by most authors. [1], [2], [3] However, there are reports of a new dominant mutation at the fibroblast growth[jpgmonline.com] recessive inheritance has been suggested by most authors.(1-3) However, there are reports of a new dominant mutation at the fipoblast growth factor receptor 2 (FGFR2) locus[bioline.org.br]

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