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Results 1 - 5 of 5 for Familial dysautonomia
  1. Familial dysautonomia 
    Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous ...
    https://medlineplus.gov/genetics/condition/familial-dysautonomia - Genetics
  2. ELP1 gene 
    ... locations in the brain. Nearly all individuals with familial dysautonomia have two copies of the same mutation in ... the protein.In a small number of reported familial dysautonomia cases, researchers have identified other mutations that change ...
    https://medlineplus.gov/genetics/gene/elp1 - Genetics
  3. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... fibrosis D-bifunctional protein deficiency Dihydrolipoamide dehydrogenase deficiency Familial dysautonomia Congenital hyperinsulinism , also called familial hyperinsulinism Familial Mediterranean ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  4. TECPR2 gene 
    ... B. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. ...
    https://medlineplus.gov/genetics/gene/tecpr2 - Genetics
  5. Spastic paraplegia type 49 
    ... B. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-49 - Genetics