Oral-facial-digital syndrome type 16 is an autosomal recessive ciliopathy caused by mutations of the TMEM107 gene. It is characterized by skeletal, neuronal and visceral malformations.
Orofaciodigital syndrome | ||||
Orofaciodigital syndrome 01 | ||||
Orofaciodigital syndrome 04 | ||||
Orofaciodigital syndrome 06 | ||||
Orofaciodigital syndrome 16 | ||||
TMEM107 | ||||
Orofaciodigital syndrome 9 | ||||
1. |
Darmency-Stamboul V et al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. |
2. |
Lambacher NJ et al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. |
3. |
Shylo NA et al. (2016) TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome. |
4. |
OMIM.ORG article Omim 617563 |