JSON

7q11.23 microduplication syndrome

^ http://purl.obolibrary.org/obo/MONDO_0012342


Term info

def

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, behavioural 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.

hasExactSynonym

trisomy 7q11.23, dup(7)(q11.23)

hasRelatedSynonym

Wbs Duplication syndrome, 7q11.23 duplication syndrome, Wbs triplication syndrome, chromosome 7Q11.23 triplication syndrome, Somerville-Van Der Aa syndrome, chromosome 7Q11.23 Duplication syndrome, Williams-Beuren region DUPLICATION syndrome

inSubset

ordo_malformation_syndrome

property value

exactMatch http://identifiers.org/omim/609757, exactMatch http://linkedlifedata.com/resource/umls/id/C4512054, exactMatch http://identifiers.org/snomedct/726707004, exactMatch http://identifiers.org/mesh/C565723, closeMatch http://linkedlifedata.com/resource/umls/id/C3149767, exactMatch Orphanet:96121, exactMatch http://linkedlifedata.com/resource/umls/id/C1857844

xref

http://purl.obolibrary.org/obo/SCTID_726707004, http://purl.obolibrary.org/obo/UMLS#_C4512054, http://purl.obolibrary.org/obo/MESH#_C565723, http://purl.obolibrary.org/obo/Orphanet_96121, http://purl.obolibrary.org/obo/ICD10#_Q92.3, http://purl.obolibrary.org/obo/GARD_0012076, http://purl.obolibrary.org/obo/OMIM_609757, http://purl.obolibrary.org/obo/UMLS#_C1857844