Joubert syndrome with orofaciodigital defect

Term ID

DOID:0060376

Synonyms

• OFD6
• orofaciodigital syndrome VI
• Polydactyly cleft lip palate psychomotor retardation
• Varadi syndrome
• Varadi-Papp syndrome

Definition

A Joubert syndrome that is characterized by orofaciodigital defect. https://www.ncbi.nlm.nih.gov/pubmed/23716954

References

• GARD:4412
• MESH:C536531
• MIM:277170
• NCI:C124841
• ORDO:2754
• SNOMEDCT_US_2023_03_01:721873007
• UMLS_CUI:C2745997

Ontology

Human Disease   ( DOID:0060376 )