OFD1

Synonym(s): 71-7A, JBTS10, CXorf5, RP23

Locus: Xp22

Protein: Oral-facial-digital syndrome 1 protein

Disorder(s):

• OFD1-Related Joubert Syndrome
• Simpson-Golabi-Behmel Syndrome, Type 2
• Oral-Facial-Digital Syndrome Type I