Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

Objective We aimed to report on previously unappreciated clinical features associated with FOXP1 -related intellectual disability (ID) syndrome, a rare neurodevelopmental disorder characterized by global developmental delay, disability, and language or without autistic features. Methods performed whole-exome sequencing (WES) molecularly characterize an individual presenting ID, epilepsy, autism spectrum disorder, behavioral problems, facial dysmorphisms as major Results WES allowed us identify unreported de novo splice site variant, c.1429-1G>T (NM_032682.6), in the gene (OMIM * 605515) causative event underlying phenotype. Clinical reassessment of patient revision literature refine phenotype haploinsufficiency, including hyperkinetic movement flat angiomas Interestingly, also has asymmetric face choanal atresia novel variant CHD7 gene. Conclusion suggest that ID syndrome may predispose development disorders angiomas. These could therefore require specific management this condition.