Main clinical characteristics: global developmental delay, neurodevelopmental disorder, autism, optic atrophy, acute/lethal encephalopathy, movement disorders (dystonia, spasticity, ataxia, myoclonus), epilepsy (often refractory to treatment), hypertrophic cardiomyopathy, behavioural problems (self-injury, self-mutilation, aggression, anxiety, ADHD, parasomnias). Dysmorphism is reported in 25% of the patients, and there is a prenatal phenotype presenting with fetal growth restriction, hydrocephalus, cerebellar hypoplasia, microcephaly.
DNM1L