Orofaciodigital syndrome 17

Definition

An orofaciodigital syndrome caused by a mutation in the INTU gene.

Also known as OFD17, OFDS XVII, oral-facial-digital syndrome, type XVII — per MONDO

Also identified as

• DOID 0080289 per MONDO
• OMIM 617926 per MONDO
• UMLS C4693640 per MONDO