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Results 1 - 10 of 17 for Autosomal recessive osteoporosis 4
  1. Severe congenital neutropenia 
    ... CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4 NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5 ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  2. 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
  3. 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
  4. Idiopathic infantile hypercalcemia 
    ... Hernando N, Jones G, Wagner CA, Konrad M. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A ...
    https://medlineplus.gov/.../idiopathic-infantile-hypercalcemia - Genetics
  5. Familial exudative vitreoretinopathy 
    ... Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in ...
    https://medlineplus.gov/.../familial-exudative-vitreoretinopathy - Genetics
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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