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Results 1 - 9 of 9 for symptomatic
  1. GM3 synthase deficiency 
    ... Amish infantile epilepsy syndrome Epilepsy syndrome, infantile-onset symptomatic Ganglioside GM3 synthase deficiency Infantile-onset symptomatic epilepsy ...
    https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency - Genetics
  2. GRN-related frontotemporal lobar degeneration 
    ... K. Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study. Neurobiol ... of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential ...
    https://medlineplus.gov/...related-frontotemporal-lobar-degeneration - Genetics
  3. Hereditary hemochromatosis 
    ... type 2 Hemochromatosis type 3 Hemochromatosis type 4 Symptomatic form of hemochromatosis type 1 National Organization for ...
    https://medlineplus.gov/.../condition/hereditary-hemochromatosis - Genetics
  4. ST3GAL5 gene 
    ... Butters TD, Platt FM, Crosby AH. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of- ...
    https://medlineplus.gov/genetics/gene/st3gal5 - Genetics
  5. Prolidase deficiency 
    ... the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family. J ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
  6. Isovaleric acidemia 
    ... W, Ensenauer R. Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. Orphanet J Rare Dis. 2012 Jan ...
    https://medlineplus.gov/genetics/condition/isovaleric-acidemia - Genetics
  7. MCCC2 gene 
    ... carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/mccc2 - Genetics
  8. MCCC1 gene 
    ... carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum Mutat. ...
    https://medlineplus.gov/genetics/gene/mccc1 - Genetics
  9. PEPD gene 
    ... the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family. J ...
    https://medlineplus.gov/genetics/gene/pepd - Genetics