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Results 1 - 10 of 27 for Autosomal recessive osteoporosis
  1. Osteoporosis-pseudoglioma syndrome 
    ... eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. LRP5 Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 ...
    https://medlineplus.gov/.../osteoporosis-pseudoglioma-syndrome - Genetics
  2. Lysinuric protein intolerance 
    ... lysine may contribute to the short stature and osteoporosis seen in people with lysinuric protein intolerance. However, the ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/lysinuric-protein-intolerance - Genetics
  3. Idiopathic infantile hypercalcemia 
    ... 2 are thought to be inherited in an autosomal recessive pattern, which means both copies of the respective ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../idiopathic-infantile-hypercalcemia - Genetics
  4. Severe congenital neutropenia 
    ... the HAX1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  5. Dyskeratosis congenita 
    ... can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means one copy of the ... each cell is sufficient to cause the disorder. Autosomal recessive means both copies of the gene in each ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
  6. Familial exudative vitreoretinopathy 
    ... by LRP5 gene variants can also have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/.../familial-exudative-vitreoretinopathy - Genetics
  7. Cerebrotendinous xanthomatosis 
    ... xanthomatosis. CYP27A1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/cerebrotendinous-xanthomatosis - Genetics
  8. Mucolipidosis III alpha/beta 
    ... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  9. Mucolipidosis III gamma 
    ... cell. GNPTG This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-iii-gamma - Genetics
  10. Microvillus inclusion disease 
    ... Gene: STX3 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../condition/microvillus-inclusion-disease - Genetics
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