5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). The disease is chromosome 5p13 duplication syndrome (Monarch Disease Ontology id MONDO_0013169). Also known as: 5p13 microduplication syndrome, chromosome 5p13 duplication syndrome, isolated cases, dup(5)(p13), trisomy 5p13.