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Results 21 - 30 of 30 for "Hypercholesterolemia," autosomal recessive
  1. Propionic acidemia 
    ... PCCA PCCB 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/propionic-acidemia - Genetics
  2. Cytochrome P450 oxidoreductase deficiency 
    ... mutations. POR 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/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  3. Abetalipoproteinemia 
    ... abetalipoproteinemia. MTTP 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/abetalipoproteinemia - Genetics
  4. Lysosomal acid lipase deficiency 
    ... deficiency. LIPA 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/.../lysosomal-acid-lipase-deficiency - Genetics
  5. Congenital nephrotic syndrome 
    ... LAMB2 PLCE1 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/congenital-nephrotic-syndrome - Genetics
  6. Hyperphosphatemic familial tumoral calcinosis 
    ... GALNT3 KL 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/...rphosphatemic-familial-tumoral-calcinosis - Genetics
  7. Bardet-Biedl syndrome 
    ... Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of a BBS ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  8. Glycogen storage disease type I 
    ... G6PC1 SLC37A4 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-i - Genetics
  9. Methylmalonic acidemia with homocystinuria 
    ... Methylmalonic acidemia with homocystinuria is inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  10. Methylmalonic acidemia 
    ... MMADHC MMUT This condition is inherited in an autosomal recessive pattern, which means both copies of the MMUT, ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/genetics/condition/methylmalonic-acidemia - Genetics
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