RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities
Findings
No curated finding names RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodevelopmental disorder caused by variation in the RFX3 gene. This disorder is characterised by global developmental delay, intellectual disability, and behavioural abnormalities. Most patients present autism spectrum disorder and/or attention deficit hyperactivity disorder. Other phenotypes observed less frequently include sleep difficulties, micro or macrocephaly, non-specific and non-recurrent dysmorphisms, and brain MRI abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0700361), read 2026-09-29. CC BY 4.0.