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Results 1 - 10 of 19 for Cerebral hypomyelination
  1. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... of the condition. Aspartyl-tRNA synthetase deficiency HBSL Hypomyelination with brain stem and spinal cord involvement and leg spasticity Genetic Testing Registry: Hypomyelination with brain stem and spinal cord involvement and leg spasticity ...
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  2. TUBB4A-related leukodystrophy 
    ... H-ABC.H-ABC is characterized by particular brain abnormalities, including hypomyelination. In addition, tissue in certain regions of the brain breaks down (atrophies), most prominently in a region ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  3. TUBB4A gene 
    ... in between these two extremes. In addition to hypomyelination in certain brain regions, including those that help control movements, affected ... dysphagia). Individuals with dystonia 4 do not have hypomyelination or other brain abnormalities like those that occur in people with ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  4. DARS1 gene 
    ... Knaap MS, Wolf NI. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. ...
    https://medlineplus.gov/genetics/gene/dars1 - Genetics
  5. CSTB gene 
    ... S, Ray PN, Yoon G. Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  6. Phosphoglycerate dehydrogenase deficiency 
    ... cells leading to a loss of brain tissue (brain atrophy), specifically affecting the fatty tissue known as myelin that surrounds nerve cells (hypomyelination). Frequently, the tissue that connects the two halves ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  7. Autosomal recessive congenital methemoglobinemia 
    ... nerve impulses. This reduced ability to form myelin (hypomyelination) leads to a loss of nerve cells, particularly in the brain. The loss of these cells likely contributes to ...
    https://medlineplus.gov/...al-recessive-congenital-methemoglobinemia - Genetics
  8. CYB5R3 gene 
    ... nerve impulses. This reduced ability to form myelin (hypomyelination) leads to a loss of nerve cells, particularly in the brain. The loss of these cells likely contributes to ...
    https://medlineplus.gov/genetics/gene/cyb5r3 - Genetics
  9. Hypomyelination and congenital cataract 
    ... disorders called leukoencephalopathies. Leukoencephalopathies involve ... impulses. Hypomyelination and congenital cataract is caused by a reduced ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  10. Leukoencephalopathy with vanishing white matter 
    ... Knaap MS. Defective translation initiation causes vanishing of cerebral white ... hypomyelination/vanishing white matter disease--a common leukodystrophy caused ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
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