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Results 1 - 10 of 48 for Gordon syndrome
  1. Gordon Holmes syndrome 
    Gordon Holmes syndrome is a rare condition characterized by reproductive and neurological problems. One of the key features of ... Some never undergo puberty. While some people with Gordon Holmes syndrome seem to have normal puberty, they develop other ...
    https://medlineplus.gov/genetics/condition/gordon-holmes-syndrome - Genetics
  2. Pseudohypoaldosteronism type 2 
    ... Familial hypertensive hyperkalemia FHHt Gordon hyperkalemia-hypertension syndrome Gordon's syndrome PHAII Pseudohypoaldosteronism type II Genetic Testing Registry: Pseudohypoaldosteronism ...
    https://medlineplus.gov/.../condition/pseudohypoaldosteronism-type-2 - Genetics
  3. 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
  4. 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
  5. Boucher-Neuhäuser syndrome 
    ... Zuchner S. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain. ... esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. J Clin Endocrinol Metab. 2014 Oct;99(10): ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - Genetics
  6. 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
  7. 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
  8. 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
  9. 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
  10. MN1 C-terminal truncation syndrome 
    ... 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/.../mn1-c-terminal-truncation-syndrome - Genetics
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