P315: Expanding the phenotype of SETD5-related disorder through a Facebook support group
Abstract
Neurodevelopmental disorders comprise a heterogeneous group of conditions frequently attributed to genetic causes, with the use of exome sequencing leading to the discovery of more than 1,500 associated genes. SETD5-related disorder is a neurodevelopmental disorder caused by pathogenic variants in the SETD5 gene, which can impact brain function and development. Affected individuals have been characterized by intellectual disability, developmental delay, autism spectrum disorder, feeding difficulties, hypotonia, and dysmorphic facial features.
Fields of Study & Subjects
Genetics and Neurodevelopmental Disorders
Genomics and Rare Diseases
Autism Spectrum Disorder Research
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103809–103809
- Publication date
- 1 January 2026
- Language
- EN