(Q50349718)

English

hereditary sensory and autonomic neuropathy type 1A

hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has material basis in heterozygous mutation in the SPTLC1 gene on chromosome 9q22

  • hereditary sensory and autonomic neuropathy type IA
  • HSAN1A
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