disease arises from structure disease arises from alteration in structure 5p13 (Human) syndromic intellectual disability syndrome caused by partial chromosomal duplication chromosome 5p13 duplication syndrome https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/chromosome_5p13_duplication_syndrome DOID:0060460 5p13 microduplication syndrome OMIM:613174 dup(5)(p13) MONDO:0013169 MESH:C567717 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). chromosome 5p13 duplication syndrome, isolated cases UMLS:C2750805 GARD:0017505 MEDGEN:416385 Orphanet:329802 chromosome 5p13 duplication syndrome trisomy 5p13 multiple congenital anomalies/dysmorphic syndrome-intellectual disability partial trisomy/tetrasomy of the short arm of chromosome 5