OFD1-related ciliopathy

OFD1-related ciliopathy is a condition caused by changes in the OFD1 gene. These changes can be monoallelic, biallelic, or hemizygous and affect the function of tiny structures in cells called cilia. Cilia help many parts of the body work properly, and when they are affected, it can lead to a range of different problems. People with this condition may show a broad range of features including characteristics seen in Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia. This means that the effects of the gene changes can vary widely from person to person.

Information about symptoms is currently limited for this condition.

OFD1-related ciliopathy is caused by alterations in the OFD1 gene. These genetic changes can occur in different forms (monoallelic, biallelic, or hemizygous) and lead to disruptions in the function of cilia, which are important for the normal development and function of many parts of the body.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.