8q22.1 microdeletion syndrome
Synonyms: Monosomy 8q22.1 | Nablus mask-like facial syndrome
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
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 February 2024
Newly diagnosed with
8q22.1 microdeletion syndrome?
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