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Neuropathy, hereditary sensory and autonomic, type 1A
rareAn axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.
- Identifiers
- MONDO:0008086 OMIM:162400
- Causal genes
- SPTLC1
- Also known as
- hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1 · HSAN1A · neuropathy, hereditary sensory and autonomic, type IA · SPTLC1 hereditary sensory and autonomic neuropathy type 1
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