Metadata | |
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ID | DOID:0060961 |
Name | 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. https://pubmed.ncbi.nlm.nih.gov/27060890/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Oral-facial-digital syndrome type 18 [EXACT] Oral-facial-digital syndrome with short stature and brachymesophalangy [EXACT] Orofaciodigital syndrome type 18 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |