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Results 41 - 50 of 54 for Leigh syndrome
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  1. Kindler epidermolysis bullosa 
    ... R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, ... disorder, Kindler syndrome. J Invest Dermatol. 2004 Jan;122(1):78- ...
    https://medlineplus.gov/.../condition/kindler-epidermolysis-bullosa - Genetics
  2. FERMT1 gene 
    ... R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, ... disorder, Kindler syndrome. J Invest Dermatol. 2004 Jan;122(1):78- ...
    https://medlineplus.gov/genetics/gene/fermt1 - Genetics
  3. Heterotaxy syndrome 
    ... Hazucha MJ, Burns K, Robinson B, Knowles MR, Leigh MW; Genetic Disorders of ... Syndrome: Proceedings From the 10th International PCICS Meeting. World ...
    https://medlineplus.gov/genetics/condition/heterotaxy-syndrome - Genetics
  4. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like ... Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2009 May 26 [ ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  5. Fumarase deficiency 
    ... Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP. Genetic ... tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008 ...
    https://medlineplus.gov/genetics/condition/fumarase-deficiency - Genetics
  6. Multiple system atrophy 
    ... failure with multiple system atrophy SDS Shy-Drager syndrome Sporadic olivopontocerebellar atrophy ... Hulot JS, Morrison KE, Renton A, Sussmuth SD, Landwehrmeyer BG, Ludolph A, Agid Y, Brice A, Leigh PN, Bensimon G; NNIPPS Genetic Study Group. Genetic ...
    https://medlineplus.gov/genetics/condition/multiple-system-atrophy - Genetics
  7. FH gene 
    ... Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP. Genetic ... tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008 ...
    https://medlineplus.gov/genetics/gene/fh - Genetics
  8. Harlequin ichthyosis 
    ... condition. Autosomal recessive congenital ichthyosis ... Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Mutations in ...
    https://medlineplus.gov/genetics/condition/harlequin-ichthyosis - Genetics
  9. Keratoderma with woolly hair 
    ... keratoderma syndrome Genetic Testing Registry: Naxos disease ... L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Recessive mutation in ...
    https://medlineplus.gov/.../condition/keratoderma-with-woolly-hair - Genetics
  10. DSP gene 
    ... P. A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to ... Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Recessive mutation in ...
    https://medlineplus.gov/genetics/gene/dsp - Genetics
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