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8q22.1 microdeletion syndrome
rareThe 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
- Identifiers
- MONDO:0011977 OMIM:608156Orphanet:178303
- Part of
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilityPartial deletion of the long arm of chromosome 8
- Also known as
- monosomy 8q22.1 · NABLUS mask-like facial syndrome · NMLFS
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