| Metadata | |
|---|---|
| ID | DOID:0060374 |
| Name | orofaciodigital syndrome IV |
| Definition | An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 |
| Xrefs |
SNOMEDCT_US_2023_03_01:239031000 |
| Subsets |
DO_rare_slim |
| Synonyms |
Baraitser-Burn syndrome [EXACT] OFD4 [EXACT] |
| Parent Relationships |