orofaciodigital syndrome IV

Term ID

DOID:0060374

Synonyms

• Baraitser-Burn syndrome
• OFD4

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

References

• MESH:C537133
• OMIM:258860
• ORDO:2753
• SNOMEDCT_US_2023_03_01:239031000
• UMLS_CUI:C0406727

Ontology

Human Disease   ( DOID:0060374 )