Diagnosis
ZSWIM6-related intellectual disability (ID) is a syndromic neurocognitive disorder caused by a recurrent de novo variant in the ZSWIM6 gene (p.Arg913Ter).
The core clinical feature is severe-to-profound developmental/ intellectual disability (DD/ID), with additional neurological features and gastro-intestinal disorders being common.
It is distinct from the multiple congenital anomaly disorder acromelic frontonasal dysostosis (AFND), caused by a seperate recurrent variant p.Arg1163Trp in the same gene.
Prevalence
This is a rare congenital condition, which was first described in 2017. Seven affected individuals were reported in 2017, and we are now aware of one additional individual.
Inheritance
The condition is due to a de novo (new) autosomal dominant gene variant, with a low chance of recurrence of the condition in siblings or relatives of the affected individual.