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Results 1 - 10 of 10 for hypomyelination leukodystrophy 3
  1. Pol III-related leukodystrophy 
    ... Wolf NI. POLR3A and POLR3B Mutations in Unclassified Hypomyelination. Neuropediatrics. 2015 ... with or without dental abnormalities and/or hypogonadotropic ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  2. POLR3A gene 
    ... hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  3. POLR3B gene 
    ... hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  4. TUBB4A-related leukodystrophy 
    ... transmission of nerve impulses. In particular, TUBB4A-related leukodystrophy involves hypomyelination, which means that the nervous system has a ... TUBB4A-related hypomyelinating leukodystrophy Genetic Testing ... Hypomyelination with atrophy of basal ganglia and cerebellum National ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  5. TUBB4A gene 
    ... ability of the nervous system to produce myelin (hypomyelination). TUBB4A-related leukodystrophy has a wide range of severity, with a ... dysphagia). Individuals with dystonia 4 do not have hypomyelination or other ... leukodystrophy (described above).The most common TUBB4A gene mutation ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  6. Hypomyelination and congenital cataract 
    ... 3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Citation on PubMed
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  7. Leukoencephalopathy with vanishing white matter 
    ... R, Elroy-Stein O. Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. Mol ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  8. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... responsive neuroinflammatory disorder. Neurology. 2015 Jan 20;84(3):226-30. doi: 10.1212/WNL.0000000000001157. Epub 2014 Dec 19. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  9. Pelizaeus-Merzbacher disease 
    ... of a group of genetic disorders called leukodystrophies. Leukodystrophies are ... involves hypomyelination, which means that the nervous system has a ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  10. Canavan disease 
    ... of a group of genetic disorders called leukodystrophies. Leukodystrophies ... but by age 3 to 5 months, problems with development become noticeable. ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics