We describe 25 children and adults with neurodevelopmental conditions linked to changes in the CMIPgene. Most (80%) showed developmental delay in early childhood. About 72% had intellectual disability, ranging from borderline to severe. Epilepsy occurred in about one third of individuals (36%).
Neurodevelopmental and psychiatric features were very common (80%). These included autism-related traits in 13 individuals and attention problems or hyperactivity (ADHD) in 11 individuals. In addition, 68% had other psychiatric or behavioral conditions such as anxiety, mood disorders, oppositional behavior, or other mental health difficulties.
About half of the individuals (52%) had poor growth or difficulty gaining weight, and 40% had reflux problems affecting feeding. Premature birth was also relatively common (40%). Sleep problems were reported in about one third (32%), including difficulty falling asleep or staying asleep. Brain scans (MRI) were performed in most individuals (64%) and did not show any clear structural abnormalities.
CMIP