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68 Possible Causes for Autosomal Recessive Inheritance Has Also Been Suggested

  • Heelspur

    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] […] was 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]

  • 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] […] was 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]

  • HIV Infection

    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[orpha.net] been identified.[orpha.net] […] was 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[orpha.net]

  • Young-Simpson Syndrome

    Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.[orpha.net] Less than 20 cases have been reported so far. Cryptorchidism is present in affected males.[orpha.net]

  • Congenital Chylothorax

    Our findings support the likelihood of an autosomal recessive inheritance in some cases of this condition, rather than X-linked recessive inheritance, which has also been[ncbi.nlm.nih.gov] suggested.[ncbi.nlm.nih.gov]

  • Ochoa Syndrome

    Genetic studies have demonstrated that this condition is inherited as an autosomal recessive trait, and a potential gene has been mapped to chromosome 10q23-q24.[ncbi.nlm.nih.gov] There is also enough evidence to suggest that patients with this syndrome as well as those with subclinical neurological bladder, occult neuropathic bladder, non-neurogenic[ncbi.nlm.nih.gov]

  • Larsen's Syndrome

    A case of the Larsen's syndrome in a family is described. The girl has joint dislocations, an unusual face and bone abnormalities. Larsen's syndrome in this case has a genetic recessive origin. Both dominant and recessive forms may exist. The heterogeneity of the syndrome is emphasized and the differential diagnosis[…][ncbi.nlm.nih.gov]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    However, these symptoms may be sporadic, and autosomal recessive or X-linked inheritance has also been described ( Feldkirschner et al 2013 ; Schessl et al 2014 ).[medlink.com] A combination of distal and proximal weakness, cardiomyopathy, peripheral neuropathy, and autosomal dominant inheritance should suggest this disorder ( Nakano et al 1996 )[medlink.com]

  • Kallmann Syndrome

    In familial KS, autosomal recessive, autosomal dominant, and X-chromosomal recessive inheritance have been described [ 9 ].[doi.org] Oligogenic mode of inheritance has also been suggested [ 10 – 13 ].[doi.org]

  • Ectopia Lentis

    This combination of autosomal recessive inheritance has not been reported earlier in the literature and suggests a role of connective tissue genes in BFP.[annalsofian.org] Her male sibling also had chorioretinal dystrophy and EL.[annalsofian.org]

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