disease arises from structure disease arises from alteration in structure Xp11.23-p11.22 (Human) syndromic intellectual disability epilepsy chromosome Xp11.23-p11.22 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_xp1123_p1122_duplication_syndrome Orphanet:217377 MONDO:0010428 GARD:0012766 DOID:0060461 chromosome xp11.23-p11.22 duplication syndrome, X-linked dominant OMIM:300801 SCTID:721881008 UMLS:C2749022 MESH:C567585 Xp11.22-p11.23 Microduplication DECIPHER:89 chromosome Xp11.23-p11.22 duplication syndrome MEDGEN:440690 A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. multiple congenital anomalies/dysmorphic syndrome-intellectual disability partial duplication of the short arm of chromosome X