A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
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neuropathy, hereditary sensory and autonomic, type 1A
MONDO:0008086
hereditary sensory and autonomic neuropathy type 1B
MONDO:0011961
neuropathy, hereditary sensory, type 1D
MONDO:0013381
hereditary sensory neuropathy-deafness-dementia syndrome
MONDO:0013584
neuropathy, hereditary sensory, type 1F
MONDO:0014286