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14 Possible Causes for Autosomal Recessive Disorder Tends to Be More Severe

  • Hyperkalemia

    […] on the kidney; the autosomal recessive form is more severe and can lead to death in the neonate if not treated aggressively.[aafp.org] If these patients survive infancy, the disorder tends to be less severe as they get older. 20 Pseudohypoaldosteronism refers to congenital resistance to the actions of aldosterone[aafp.org]

  • Autosomal-Recessive Robinow Syndrome

    […] form of the disorder tends to be much more severe.[en.wikipedia.org] Examples of differences are summarized in the following table: [7] Characteristic Autosomal recessive Autosomal dominant Stature Shorter stature -2 SD or less Short or normal[en.wikipedia.org] Infrequently, the labia majora may also be underdeveloped. [2] Some research has shown that females may experience vaginal atresia or haematocolpos. [3] The autosomal recessive[en.wikipedia.org]

  • Robinow Syndrome

    […] form of the disorder tends to be much more severe.[en.wikipedia.org] Examples of differences are summarized in the following table: [7] Characteristic Autosomal recessive Autosomal dominant Stature Shorter stature -2 SD or less Short or normal[en.wikipedia.org] Infrequently, the labia majora may also be underdeveloped. [2] Some research has shown that females may experience vaginal atresia or haematocolpos. [3] The autosomal recessive[en.wikipedia.org]

  • Calvarial Doughnut Lesions - Bone Fragility Syndrome

    Also relative to OI types I and IV, these disorders tend to be more severe.[radiologykey.com] Examples include Bruck syndrome, an autosomal recessive disorder characterized by OI and congenital joint contractures ( 36 , 37 ), and infantile/childhood hypophosphatasia[radiologykey.com] While OI is very uncommon in the general population, these other brittle bone disorders are extremely rare and usually present in the neonatal period.[radiologykey.com]

  • Hypoaldosteronism

    […] on the kidney; the autosomal recessive form is more severe and can lead to death in the neonate if not treated aggressively.[aafp.org] If these patients survive infancy, the disorder tends to be less severe as they get older. 20 Pseudohypoaldosteronism refers to congenital resistance to the actions of aldosterone[aafp.org]

  • Pfeiffer-Palm-Teller Syndrome

    […] form of the disorder tends to be much more severe.[en.wikipedia.org] Examples of differences are summarized in the following table: [7] Characteristic Autosomal recessive Autosomal dominant Stature Shorter stature -2 SD or less Short or normal[en.wikipedia.org] Infrequently, the labia majora may also be underdeveloped. [2] Some research has shown that females may experience vaginal atresia or haematocolpos. [3] The autosomal recessive[en.wikipedia.org]

  • Atelosteogenesis

    Atelosteogenesis, type 2 tends to be more severe, however. Genetics Atelosteogenesis, type II has an autosomal recessive pattern of inheritance.[ipfs.io] Atelosteogenesis, type 2 is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene.[ipfs.io] The signs and symptoms of atelosteogenesis, type 2, are similar to those of another skeletal disorder called diastrophic dysplasia.[ipfs.io]

  • Familial Pseudohyperkalemia

    […] on the kidney; the autosomal recessive form is more severe and can lead to death in the neonate if not treated aggressively.[aafp.org] If these patients survive infancy, the disorder tends to be less severe as they get older. 20 Pseudohypoaldosteronism refers to congenital resistance to the actions of aldosterone[aafp.org]

  • Atelosteogenesis Type 2

    Atelosteogenesis, type 2 tends to be more severe, however. Genetics Atelosteogenesis, type II has an autosomal recessive pattern of inheritance.[ipfs.io] The signs and symptoms of atelosteogenesis, type 2 are similar to those of another skeletal disorder called diastrophic dysplasia.[worldlibrary.org] The signs and symptoms of atelosteogenesis, type 2 are similar to those of another skeletal disorder called diastrophic dysplasia .[ituneslibrary.net]

  • Nemaline Myopathy Type 1

Further symptoms