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Results 1 - 10 of 48 for Jewish
  1. Costeff syndrome 
    ... 1 in 10,000 individuals in the Iraqi Jewish population, in which at least 40 cases have ... optic atrophy with chorea and spastic paraplegia Iraqi Jewish optic atrophy plus MGA, type III MGA3 OPA3 ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  2. ASPA gene 
    ... in people of Ashkenazi (eastern and central European) Jewish heritage. Two specific ASPA gene mutations cause almost ... cases of the disease in people of Ashkenazi Jewish descent. One of these mutations replaces the amino ...
    https://medlineplus.gov/genetics/gene/aspa - Genetics
  3. Canavan disease 
    ... in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 ... 400 to 13,500 people in the Ashkenazi Jewish population. The incidence in other populations is unknown. ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  4. Gaucher disease 
    ... in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds; it ... in 500 to 1,000 people of Ashkenazi Jewish heritage. Types 2 and 3 are uncommon and ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
  5. Early-onset isolated dystonia 
    ... in people of Ashkenazi (central and eastern European) Jewish heritage, affecting 1 in 3,000 to 9, ... 1 in 10,000 to 30,000 non-Jewish people worldwide. A particular variant (also called a ...
    https://medlineplus.gov/.../condition/early-onset-isolated-dystonia - Genetics
  6. Mucolipidosis type IV 
    ... About 70 percent of affected individuals have Ashkenazi Jewish ancestry. Mutations in the MCOLN1 gene cause mucolipidosis ... of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. It remains unclear how mutations in this ...
    https://medlineplus.gov/genetics/condition/mucolipidosis-type-iv - Genetics
  7. Familial Mediterranean fever 
    ... region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to ... carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet. 2000 Apr; ...
    https://medlineplus.gov/.../condition/familial-mediterranean-fever - Genetics
  8. MTTP gene 
    ... affected individuals of Ashkenazi (eastern and central European) Jewish descent; this mutation replaces the protein building block ( ... evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an ...
    https://medlineplus.gov/genetics/gene/mttp - Genetics
  9. MEFV gene 
    ... carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet. 1999 Apr;64( ... carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet. 2000 Apr; ...
    https://medlineplus.gov/genetics/gene/mefv - Genetics
  10. GNE myopathy 
    ... When a similar disorder was discovered in Iranian Jewish families, researchers called it rimmed vacuole myopathy or ... myopathy is more frequent among the Japanese, Iranian Jewish, and Indian subcontinent populations. Many different variants (also ...
    https://medlineplus.gov/genetics/condition/gne-myopathy - Genetics
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