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Results 1 - 9 of 9 for hypomyelination leukodystrophy 6
  1. TUBB4A-related leukodystrophy 
    ... TUBB4A-related hypomyelinating leukodystrophy Genetic Testing Registry: Hypomyelinating leukodystrophy 6 Hypomyelination with atrophy of basal ganglia and cerebellum National ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  2. POLR3B gene 
    ... central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with ... RNA polymerase III 127.6 kDa polypeptide DNA-directed RNA polymerase III subunit ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  3. 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
  4. 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
  5. 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
  6. Leukodystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Start Here ... Leukodystrophies ... Leukodystrophy refers to genetic diseases that predominantly affect the white matter of the central nervous ...
    https://www.ninds.nih.gov/.../disorders/leukodystrophy - External Health Links
  7. Adult Refsum disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... Leukodystrophy refers to genetic diseases that predominantly ...
    https://www.ninds.nih.gov/.../leukodystrophy#refsum-disease-adult - External Health Links
  8. 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
  9. Canavan disease 
    ... one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin ... Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics