SYNCRIP-related neurodevelopmental disorder
Findings
No curated finding names SYNCRIP-related neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neurodevelopmental disorder in which the cause of the disease is a variation in the SYNCRIP gene. It is characterized by a neurologic and developmental disorder with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. Other signs and symptoms may include cerebral structural anomalies such as periventricular nodular heterotopia and widening of subarachnoid spaces.
Definition from the Mondo Disease Ontology (MONDO:0800456), 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.
- SYNCRIPHGNC:16918
- Definitive · ClinGen · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2020