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Results 1 - 10 of 863 for 7
  1. Spastic paraplegia type 7 
    Spastic paraplegia type 7 (also called SPG7) is one of more than 80 genetic disorders known as hereditary spastic paraplegias. These disorders primarily affect ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  2. Microphthalmia with linear skin defects syndrome 
    ... mutation in the HCCS gene. MCOPS7 Microphthalmia syndromic 7 Microphthalmia with linear skin lesions syndrome Microphthalmia, dermal aplasia, and sclerocornea Microphthalmia, syndromic 7 MIDAS syndrome MLS syndrome Syndromic microphthalmia-7 Genetic ...
    https://medlineplus.gov/...thalmia-with-linear-skin-defects-syndrome - Genetics
  3. Smith-Lemli-Opitz syndrome 
    ... which provides instructions for making an enzyme called 7-dehydrocholesterol reductase. This enzyme is responsible for the ... DHCR7 gene reduce or eliminate the activity of 7-dehydrocholesterol reductase, preventing cells from producing enough cholesterol. ...
    https://medlineplus.gov/.../condition/smith-lemli-opitz-syndrome - Genetics
  4. 7q11.23 duplication syndrome 
    ... this disorder is estimated to be 1 in 7,500 to 20,000 people. 7q11.23 duplication ... region on the long (q) arm of chromosome 7 in each cell. This region is called the ...
    https://medlineplus.gov/.../condition/7q1123-duplication-syndrome - Genetics
  5. Mucopolysaccharidosis type VII 
    ... glucuronidase deficiency GUSB deficiency MPS VII MPS7 Mucopolysaccharidosis 7 Mucopolysaccharidosis VII Sly Syndrome Genetic Testing Registry: Mucopolysaccharidosis ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vii - Genetics
  6. Andersen-Tawil syndrome 
    ... their family. Andersen syndrome ATS Long QT syndrome 7 LQT7 Genetic Testing Registry: Andersen Tawil syndrome Andersen- ... 9. doi: 10.1016/s0092-8674(01)00342-7. Citation on PubMed Tristani-Firouzi M, Etheridge SP. ...
    https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome - Genetics
  7. CLPB deficiency 
    ... symptoms of the condition. 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type VII 3-methylglutaconic aciduria ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  8. Williams syndrome 
    ... adulthood. Williams syndrome affects an estimated 1 in 7,500 to 18,000 people. Williams syndrome is ... genetic material from a specific region of chromosome 7. The deleted region includes 25 to 27 genes, ...
    https://medlineplus.gov/genetics/condition/williams-syndrome - Genetics
  9. Russell-Silver syndrome 
    ... affected women is about 140 centimeters (4 feet, 7 inches).Many children with Russell-Silver syndrome have ... on genes located in particular regions of chromosome 7 and chromosome 11.People normally inherit one copy ...
    https://medlineplus.gov/genetics/condition/russell-silver-syndrome - Genetics
  10. FOXP2-related speech and language disorder 
    ... deletion that removes a small segment of chromosome 7, including the FOXP2 gene and several neighboring genes. ... from a rearrangement of the structure of chromosome 7 (such as a translocation) or from inheriting two ...
    https://medlineplus.gov/...oxp2-related-speech-and-language-disorder - Genetics
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