neuropathy, hereditary sensory and autonomic, type 1A
An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.
MONDO:0018213
hereditary sensory and autonomic neuropathy type 1
is_a
HSAN1A
exact
SPTLC1 hereditary sensory and autonomic neuropathy type 1
exact
hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1
exact
neuropathy, hereditary sensory and autonomic, type IA
related
SPBC18E5.02c