Version: 8.0.0
Date: Tue Jan 28 2025
orofaciodigital syndrome XVIII
DOID:0060961
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

orofaciodigital syndrome XVIII

Definition
An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13.
Synonyms
  • Oral-facial-digital syndrome type 18
  • Oral-facial-digital syndrome with short stature and brachymesophalangy
Cross References
Parent Terms
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None
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