| Metadata | |
|---|---|
| ID | DOID:0060376 |
| Name | Joubert syndrome with orofaciodigital defect |
| Definition | A Joubert syndrome that is characterized by orofaciodigital defect. https://www.ncbi.nlm.nih.gov/pubmed/23716954 |
| Xrefs |
SNOMEDCT_US_2023_03_01:721873007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
OFD6 [EXACT] orofaciodigital syndrome VI [EXACT] Polydactyly cleft lip palate psychomotor retardation [EXACT] Varadi syndrome [EXACT] Varadi-Papp syndrome [EXACT] |
| Parent Relationships |
is_a Joubert syndrome |