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Results 1 - 10 of 19 for Congenital peripheral neuropathy
  1. Hypomyelination and congenital cataract 
    ... in some individuals. Most people with hypomyelination and congenital cataract have reduced sensation in their arms and legs (peripheral neuropathy). In addition, affected individuals typically have speech difficulties ( ...
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  2. Channelopathy-associated congenital insensitivity to pain 
    ... of the sense of smell (anosmia).Channelopathy-associated congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which ...
    https://medlineplus.gov/...sociated-congenital-insensitivity-to-pain - Genetics
  3. BSCL2 gene 
    ... G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol. 2005 Mar;57( ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  4. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... also called agenesis of the corpus callosum with peripheral neuropathy Polycystic kidney disease Beta thalassemia Bloom syndrome Canavan disease PMM2 -congenital disorder of glycosylation , also called PMM2 -CDG Cystic ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  5. HSPB1 gene 
    ... Mutations of small heat shock proteins and human congenital diseases. Biochemistry ... in inherited peripheral neuropathies. Ann Med. 2005;37(6):413-22. doi: ...
    https://medlineplus.gov/genetics/gene/hspb1 - Genetics
  6. Congenital fibrosis of the extraocular muscles 
    ... decreased ability to feel sensations in the limbs (peripheral neuropathy), which can begin in childhood or adulthood.Brain ...
    https://medlineplus.gov/...nital-fibrosis-of-the-extraocular-muscles - Genetics
  7. PMM2-congenital disorder of glycosylation 
    ... sensation and weakness in their arms and legs (peripheral neuropathy), an abnormal curvature of the spine (kyphoscoliosis), impaired ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics
  8. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... sensory cells. This nerve damage is known as peripheral neuropathy. Weakness in the legs, followed by the arms, ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  9. ALG1-congenital disorder of glycosylation 
    ... problems, reduced sensation in their arms and legs (peripheral neuropathy), swelling (edema), and gastrointestinal difficulties.The signs and ... Carbohydrate deficient glycoprotein syndrome type Ik CDG1K CDGIk Congenital disorder of glycosylation type 1K Mannosyltransferase 1 deficiency ...
    https://medlineplus.gov/...alg1-congenital-disorder-of-glycosylation - Genetics
  10. Hereditary sensory and autonomic neuropathy type II 
    ... spinal cord. HSAN2 is considered a form of peripheral neuropathy.The signs and symptoms of HSAN2 typically begin ... not show signs and symptoms of the condition. Congenital sensory neuropathy Hereditary sensory and autonomic neuropathy type ...
    https://medlineplus.gov/...-sensory-and-autonomic-neuropathy-type-ii - Genetics
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