[2] The broad phenotype includes global developmental delay, intellectual disability, epilepsy, musculoskeletal anomalies, altered pain perception, ataxia, hypotonia, nystagmus, and cerebellar atrophy.
[1][2] Other signs of TRPM3-related neurodevelopmental disorder are dysmorphic facial features, scoliosis, hip dysplasia, exotropia, strabismus, nystagmus, ataxia, and altered pain perception.
[1][2] Since the general population has numerous truncating variants and microdeletions throughout TRPM3, the underlying mechanism for neurodevelopmental disorder is not haploinsufficiency.
[5][6][2] Diagnosis is made through genetic testing using an intellectual disability or epilepsy multigene panel that includes TRPM3 or whole exome sequencing.
[1] Following identification of a mutation in the TRPM3 gene, alterations in channel activity are evaluated using electrophysiological assays and calcium imaging[2][6][5] There is currently no known cure or treatment for TRPM3-related neurodevelopmental disorder.