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Results 1 - 8 of 8 for "Bardet-Biedl" syndrome
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  1. Bardet-Biedl syndrome 
    Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  2. MKKS gene 
    ... variants in the MKKS gene can also cause Bardet-Biedl syndrome, a condition that is related to McKusick-Kaufman ... This Health Condition MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition BBS6 HMCS KMS ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  3. BBS1 gene 
    ... BBS1 gene have been identified in people with Bardet-Biedl syndrome. Mutations in this gene are the most common cause of Bardet-Biedl syndrome, accounting for about one-quarter of all cases. ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  4. BBS10 gene 
    ... the BBS10 gene have been found to cause Bardet-Biedl syndrome. Mutations in this gene account for about 20 ... BBS10 gene lead to the specific features of Bardet-Biedl syndrome. A malfunctioning BBS10 protein appears to affect the ...
    https://medlineplus.gov/genetics/gene/bbs10 - Genetics
  5. McKusick-Kaufman syndrome 
    ... overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. However, Bardet-Biedl syndrome has several features that are not typically seen ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  6. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  7. Retinitis pigmentosa 
    ... a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa ( ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  8. NPHP1 gene 
    ... at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94( ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics