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Results 1 - 7 of 7 for Hypomyelinating leukodystrophy 7
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  1. Pol III-related leukodystrophy 
    ... callosum Hypomyelination, hypodontia, hypogonadotropic hypogonadism Leukodystrophy with oligodontia Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  2. POLR3B gene 
    ... POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  3. POLR3A gene 
    ... POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. Pelizaeus-Merzbacher-like disease type 1 
    ... like disease National Organization for Rare Disorders (NORD) ... disease 1, and related hypomyelinating disorders. Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032-1306388. Epub 2012 ...
    https://medlineplus.gov/.../pelizaeus-merzbacher-like-disease-type-1 - Genetics
  5. TUBB4A-related leukodystrophy 
    ... H. Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating ... A. TUBB4A-Related Leukodystrophy. 2016 Nov 3. In: Adam MP, Feldman J, ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  6. Hypomyelination and congenital cataract 
    ... National Organization for Rare Disorders (NORD) ... and congenital cataract. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Citation on PubMed ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  7. Pelizaeus-Merzbacher disease 
    ... to their sons. Cockayne-Pelizaeus-Merzbacher disease HLD1 Hypomyelinating leukodystrophy, 1 PMD Sudanophilic leukodystrophy Genetic Testing Registry: Pelizaeus- ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics