Condition: Paraparesis, Spastic


rs672601368 in KIF1A gene and Paraparesis, Spastic PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs1085307110 in KY;CEP63;EPHB1 gene and Paraparesis, Spastic PMID 28488683 2017 Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

rs63750886 in PSEN1 gene and Paraparesis, Spastic PMID 12493737 2003 Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

rs312262717 in SPG11 gene and Paraparesis, Spastic PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.