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P315: Expanding the phenotype of SETD5-related disorder through a Facebook support group

Year: 2026

Type: conference-abstract

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.

Source: Genetics in Medicine Open

Authors: Hope Northrup, Nicole Talaba, Myla Ashfaq, Syed Hashmi, Jordan Zeiger, Christina Falugi

Institutions: The University of Texas Health Science Center at Houston, The University of Texas Medical Branch at Galveston

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200

OpenAlex ID: W7133724497

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