disease arises from structure disease arises from alteration in structure 7q11.23 (Human) syndrome caused by partial chromosomal duplication hereditary disease 7q11.23 microduplication syndrome https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/williams_beuren_region_duplication_syndrome Wbs Duplication syndrome Wbs triplication syndrome 7q11.23 duplication syndrome MEDGEN:347562 GARD:0012076 chromosome 7Q11.23 Duplication syndrome Williams-Beuren region DUPLICATION syndrome dup(7)(q11.23) trisomy 7q11.23 UMLS:C1857844 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. MESH:C565723 SCTID:726707004 Somerville-Van Der Aa syndrome OMIM:609757 MONDO:0012342 DOID:0080926 DECIPHER:43 chromosome 7Q11.23 triplication syndrome Orphanet:96121 partial duplication of the long arm of chromosome 7