Chromosome 15q13.3 Microdeletion Syndrome

Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype. Individuals with the deletion may have mild to moderate INTELLECTUAL DISABILITY or learning difficulties, or may have no cognitive deficits. Some individuals have EPILEPSY and dysmorphic features may occur, but there is no consistent or recognizable phenotype. Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, MUSCLE HYPOTONIA, and poor growth. OMIM: 612001

Source last updated 2026-05-24T15:29:55.190Z