In this report, we provided confirmatory evidence of phenotype expansion for three disease entities: autosomal recessive CONDSIAS manifesting as hereditary motor neuropathy with hyperreflexia due to a homozygous ADPRS variant; autosomal recessive giant axonal neuropathy presenting as a non-classical early-onset motor and sensory neuropathy due to biallelic GAN variants; and autosomal recessive congenital disorder of glycosylation due to a homozygous RFT1 variant presenting without seizures. The gene discussed is RFT1; the disease is Sensory neuropathy.