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Results 1 - 10 of 567 for lack
  1. Multiple pterygium syndrome 
    ... the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently ... cells in the developing fetus is impaired. A lack of signaling between nerve and muscle cells leads ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  2. T-cell immunodeficiency, congenital alopecia, and nail dystrophy 
    ... group of disorders characterized by an almost total lack of immune protection from foreign invaders such as ... protein, hair and nails cannot grow normally. A lack of FOXN1 protein also prevents the formation of ...
    https://medlineplus.gov/...cy-congenital-alopecia-and-nail-dystrophy - Genetics
  3. Congenital generalized lipodystrophy 
    ... a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and ... tissue and an overgrowth of muscle tissue. A lack of adipose tissue under the skin also makes ...
    https://medlineplus.gov/.../congenital-generalized-lipodystrophy - Genetics
  4. Surfactant dysfunction 
    ... and are unable to get enough oxygen. The lack of oxygen can damage the baby's brain ... abnormal processing of SP-C, resulting in a lack of mature SP-C and a buildup of ...
    https://medlineplus.gov/genetics/condition/surfactant-dysfunction - Genetics
  5. Transcobalamin deficiency 
    ... cobalamin within the body results in cells that lack cobalamin, which they need for many functions including ... deficiency lead to a complete or near-complete lack (deficiency) of transcobalamin. Other TCN2 gene mutations result ...
    https://medlineplus.gov/genetics/condition/transcobalamin-deficiency - Genetics
  6. McLeod neuroacanthocytosis syndrome 
    ... begin in mid-adulthood. Behavioral changes, such as lack of self-restraint, the inability to take care ... no protein to be produced at all. A lack of XK protein leads to an absence of ...
    https://medlineplus.gov/.../mcleod-neuroacanthocytosis-syndrome - Genetics
  7. Sepiapterin reductase deficiency 
    ... function. A nonfunctional sepiapterin reductase leads to a lack of tetrahydrobiopterin. In most parts of the body, ... Therefore, people with sepiapterin reductase deficiency have a lack of tetrahydrobiopterin in the brain. When no tetrahydrobiopterin ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  8. Nicolaides-Baraitser syndrome 
    ... thick lower lip. Many affected individuals have a lack of fat under the skin (subcutaneous fat) of ... visible on the skin surface due to the lack of subcutaneous fat.In people with Nicolaides-Baraitser ...
    https://medlineplus.gov/.../condition/nicolaides-baraitser-syndrome - Genetics
  9. SPR gene 
    ... Therefore, people with sepiapterin reductase deficiency have a lack of tetrahydrobiopterin in the brain, which affects the production of dopamine and serotonin. The lack of these two neurotransmitters causes the movement problems ...
    https://medlineplus.gov/genetics/gene/spr - Genetics
  10. Mitochondrial DNA 
    ... a result, cytochrome c oxidase cannot function. A lack of functional cytochrome c oxidase disrupts oxidative phosphorylation, ... of the condition are probably related to a lack of cellular energy. It has been suggested that ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
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