FBXW7 neurodevelopmental syndrome is a newly discovered genetic disorder which is characterized by gastrointestinal, brain, and muscle anomalies accompanied by intellectual disabilities and developmental delays.
A study done in 2022 by Sarah E M Stephenson et al. found that nearly all patients with this condition had intellectual disabilities and developmental delays that ranged from borderline to severe, 62% of FBXW7 patients had hypotonia, 46% had feeding difficulties and regular constipation, and 23% of them had epilepsy.
[1] This condition is associated with either nonsense/frameshift/splice-site/missense mutations or heterozygous deletions of the tumor suppressor FBXW7 gene, in chromosome 4.
This condition was first discovered in April 2022 by Sarah E M Stephenson et al., they gathered 35 people from across the world and analyzed their genome.
It had its fair share of media coverage, being reported on medical websites from India, Australia, and the U.S., among many more.