Pathogenic variants in the KIF1A gene are responsible mainly for three phenotypes—autosomal recessive and dominant spastic paraplegia 30 (SPG30, OMIM 610357), autosomal recessive hereditary sensory and autonomic neuropathy type 2 (HSN2C, OMIM 614213), and autosomal dominant neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment syndrome NESCAVS (OMIM 614255). Here, KIF1A is linked to neuropathy, hereditary sensory, type 2C.