Condition: Leukoaraiosis


rs782736894 in BPTF gene and Leukoaraiosis PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

rs151344517 in LOC107985154;AFG3L2;TUBB6 gene and Leukoaraiosis PMID 20725928 2010 Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.

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