CTR9-related neurodevelopmental disorder
Findings
No curated finding names CTR9-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 CTR9 gene. This disorder is characterised by varying degrees of intellectual disability, neurodevelopmental delay, hypotonia, fatigability, behavioral abnormalities including autism spectrum disorder, anxiety and aggressive behavior, cardiac anomalies, and mild facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:1040006), 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.
- CTR9HGNC:16850
- Moderate · ClinGen · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025