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Results 31 - 40 of 41 for Complex V deficiency
  1. T-cell immunodeficiency, congenital alopecia, and nail dystrophy 
    ... T-cell immunodeficiency Pignata Guarino syndrome Winged helix deficiency Genetic Testing Registry: T-cell immunodeficiency, congenital alopecia, ... nail dystrophy Severe combined immunodeficiency due to FOXN1 deficiency National Organization for Rare Disorders (NORD) T-CELL ...
    https://medlineplus.gov/...cy-congenital-alopecia-and-nail-dystrophy - Genetics
  2. ALG6-congenital disorder of glycosylation 
    ... Congenital disorder of glycosylation type Ic Glucosyltransferase 1 deficiency Genetic Testing Registry: ALG6-congenital disorder of glycosylation ...
    https://medlineplus.gov/...alg6-congenital-disorder-of-glycosylation - Genetics
  3. Gillespie syndrome 
    ... cerebellar ataxia-intellectual disability Aniridia-cerebellar ataxia-mental deficiency Partial aniridia-cerebellar ataxia-oligophrenia Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  4. Celiac disease 
    ... affected individuals. These health problems may include iron deficiency that results in a low number of red blood cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), itchy skin rashes ( ...
    https://medlineplus.gov/genetics/condition/celiac-disease - Genetics
  5. Restless legs syndrome 
    ... restless legs syndrome is related to a shortage (deficiency) of iron in certain parts of the brain. ... legs syndrome. However, it is unclear how iron deficiency is related to abnormal dopamine signaling, or how ...
    https://medlineplus.gov/genetics/condition/restless-legs-syndrome - Genetics
  6. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  7. COG5-congenital disorder of glycosylation 
    ... Kleinert P, Schnabel S, Baumgartner M, Hennet T. Deficiency in COG5 causes a moderate form of congenital ... Citation on PubMed Rymen D, Keldermans L, Race V, Regal L, Deconinck ... Golgi (COG) complex in protein glycosylation. Carbohydr Res. 2008 Aug 11; ...
    https://medlineplus.gov/...cog5-congenital-disorder-of-glycosylation - Genetics
  8. Multiple mitochondrial dysfunctions syndrome 
    ... scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase ...
    https://medlineplus.gov/...tiple-mitochondrial-dysfunctions-syndrome - Genetics
  9. Trichothiodystrophy 
    ... Stefanini M, Lehmann AR. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  10. Autosomal dominant epilepsy with auditory features 
    ... Kazdoba TM, Niu S, D'Arcangelo G. Reelin deficiency causes specific defects in the molecular composition of ...
    https://medlineplus.gov/...-dominant-epilepsy-with-auditory-features - Genetics
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