Term Name: | orofaciodigital syndrome XVIII |
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Synonyms: | Oral-facial-digital syndrome type 18, Oral-facial-digital syndrome with short stature and brachymesophalangy, Orofaciodigital syndrome type 18 |
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. |
Ontology: | Human Disease [DOID:0060961] ( DOID:0060961 ) |