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Results 1 - 10 of 24 for Gordon syndrome
  1. PNPLA6 gene 
    ... least six mutations in the PNPLA6 gene cause Gordon Holmes syndrome, a rare condition characterized by ataxia and reduced ... Neuhäuser syndrome (described above), the mutations that cause Gordon Holmes syndrome impair the function of the NTE protein, which ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  2. RNF216 gene 
    ... RNF216 gene mutations have been found to cause Gordon Holmes syndrome, a rare condition characterized by reduced production of ... difficulty coordinating movements (cerebellar ataxia). Many people with Gordon Holmes syndrome caused by RNF216 gene mutations experience a decline ...
    https://medlineplus.gov/genetics/gene/rnf216 - Genetics
  3. KLHL3 gene 
    ... The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing ...
    https://medlineplus.gov/genetics/gene/klhl3 - Genetics
  4. WNK4 gene 
    ... The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing ...
    https://medlineplus.gov/genetics/gene/wnk4 - Genetics
  5. CUL3 gene 
    ... The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing ...
    https://medlineplus.gov/genetics/gene/cul3 - Genetics
  6. MN1 gene 
    ... Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with ...
    https://medlineplus.gov/genetics/gene/mn1 - Genetics
  7. PANK2 gene 
    ... PubMed PANTOTHENATE KINASE 2; PANK2 NCBI Gene ClinVar Gordon N. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). Eur J Paediatr Neurol. 2002;6(5):243- ...
    https://medlineplus.gov/genetics/gene/pank2 - Genetics
  8. SLC30A10 gene 
    ... Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  9. DHODH gene 
    ... Morrison H, Medina B, Robertson M, Kohlhase J, Gordon C, Kirk J, Wieczorek D, Fitzpatrick DR. Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of ...
    https://medlineplus.gov/genetics/gene/dhodh - Genetics
  10. PLCB4 gene 
    ... Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff ... and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet. 2012 May 4;90( ...
    https://medlineplus.gov/genetics/gene/plcb4 - Genetics
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