8q21.11 microdeletion syndrome
Synonyms: Del(8)(q21.11) | Deletion 8q21.11 | Monosomy 8q21.11
8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability facial dysmorphism comprising a round face ptosis short philtrum Cupid’s bow and prominent low-set ears nasal speech and mild finger and toe anomalies.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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8q21.11 microdeletion syndrome?
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