disease arises from structure disease arises from alteration in structure 14q11.2 (Human) syndrome caused by partial chromosomal duplication 14q11.2 microduplication syndrome https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/14q112_microduplication_syndrome dup(14)(q11.2) MONDO:0016835 UMLS:C4749855 Orphanet:261229 GARD:0020773 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. MEDGEN:1657429 trisomy 14q11.2 partial duplication of the long arm of chromosome 14