What are ZSWIM6-related genetic disorders?
ZSWIM6-related genetic disorders are caused by a change in one copy of the ZSWIM6 gene, located on chromosome 5. There are currently two described medical conditions caused by changes in the ZSWIM6 gene. These are genetic conditions and are not related to environmental exposures or events during pregnancy or in early infant life.
This website and factsheet is about ZSWIM6-related intellectual disability which is a condition caused by a gene change known as p.Arg913Ter.
A different condition, ZSWIM6-related acrofrontonasal dysplasia (AFND), is caused by the gene change p.Arg1163Trp. AFND causes significant facial and limb differences which are NOT seen in ZSWIM6-related intellectual disability.
How many people are affected by ZSWIM6-related intellectual disability?
Only eight families with the p.Arg913Ter change in the ZSWIM6 gene are currently known around the world, so we are still learning more about this condition.