TRPM3-related neurodevelopmental disorder
TRPM3-related neurodevelopmental disorder is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. The broad phenotype includes global developmental delay, intellectual disability, epilepsy, musculoskeletal anomalies, altered pain perception, ataxia, hypotonia, nystagmus, and cerebellar atrophy.
Source: Wikipedia — TRPM3-related neurodevelopmental disorder (CC BY-SA 4.0)