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Results 1 - 5 of 5 for hypomyelination leukodystrophy 4
  1. TUBB4A gene 
    ... dysphagia). Individuals with dystonia 4 do not have hypomyelination or other brain abnormalities like those that occur in people with TUBB4A-related leukodystrophy (described above).The most common TUBB4A gene mutation that causes dystonia 4 replaces the amino acid arginine with the amino ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  2. Leukoencephalopathy with vanishing white matter 
    ... white matter. Trends Mol Med. 2006 Apr;12(4):159-66. doi: ... common leukodystrophy caused by abnormal control of protein synthesis. Mol ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  3. Hypomyelination and congenital cataract 
    ... HCC Genetic Testing Registry: Hypomyelination and Congenital Cataract Hypomyelination-congenital cataract syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5 PubMed Biancheri R, Zara F, ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  4. Canavan disease 
    ... Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. Biochimie. 2013 Apr;95(4):946-56. doi: 10.1016/j.biochi.2012. ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  5. Pelizaeus-Merzbacher-like disease type 1 
    ... particular, Pelizaeus-Merzbacher-like disease type 1 involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. The signs and symptoms of this condition are very similar to another leukodystrophy called Pelizaeus-Merzbacher disease, but the two disorders ...
    https://medlineplus.gov/.../pelizaeus-merzbacher-like-disease-type-1 - Genetics