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
Wbs Duplication syndrome
Wbs triplication syndrome
7q11.23 duplication syndrome
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
GARD:12076
OMIM:609757
MONDO:0012342
DOID:0080926
DECIPHER:43
chromosome 7Q11.23 triplication syndrome
Orphanet:96121
partial duplication of the long arm of chromosome 7