SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
Findings
No curated finding names SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodevelopmental disorder caused by heterozygous variants in SETD2 and characterized by intellectual disability or developmental delay, motor delay, speech delay, hypotonia, autism spectrum disorder, attention deficit disorder, and sometimes features such as macrocephaly, overgrowth, and dysmorphic features.
Definition from the Mondo Disease Ontology (MONDO:0800477), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SETD2HGNC:18420
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025