CNOT9-related developmental disorder with seizures
MONDO:0700353Mondo
Findings
No curated finding names CNOT9-related developmental disorder with seizures 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 CNOT9 gene. This disorder is characterised by moderate-to-severe intellectual disability, delayed or absent speech development, delayed motor development. Most patients present seizures, muscular hypotonia, facial dysmorphism, and behavioral abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0700353), read 2026-09-29. CC BY 4.0.