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Results 1 - 10 of 13 for hypomyelination leukodystrophy 2
  1. TUBB4A-related leukodystrophy 
    ... The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. Affected individuals can have varying degrees of hypomyelination and atrophy or impairment of the basal ganglia ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  2. TUBB4A gene 
    ... dysphagia). Individuals with dystonia 4 do not have hypomyelination or other ... at protein position 2 (written as Arg2Gly or R2G). The mutations that ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  3. Pelizaeus-Merzbacher-like disease type 1 
    ... particular, Pelizaeus-Merzbacher-like disease type 1 involves hypomyelination, ... but the two disorders have different genetic causes.Beginning in the ...
    https://medlineplus.gov/.../pelizaeus-merzbacher-like-disease-type-1 - Genetics
  4. Hypomyelination and congenital cataract 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... of hypomyelination and congenital cataract. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Citation ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  5. Pol III-related leukodystrophy 
    ... hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  6. 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
  7. 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
  8. 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
  9. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... Knaap MS, Wolf NI. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j. ...
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  10. Pelizaeus-Merzbacher disease 
    ... nerve impulses. In particular, Pelizaeus-Merzbacher disease involves ... Although these two types differ in severity, their features can overlap. ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
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