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Orofaciodigital syndrome 18
rareOrofaciodigital syndrome 18 (OFD18) is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.
- Identifiers
- MONDO:0054770 OMIM:617927Orphanet:508501
- Causal genes
- IFT57
- Part of
- Orofaciodigital syndrome
- Also known as
- OFD18 · Ofds 18 · oral-facial-digital syndrome type 18 · oral-facial-digital syndrome with short stature and brachymesophalangy · orofaciodigital syndrome type 18
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