Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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
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Orofaciodigital syndrome 01
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Orofaciodigital syndrome 04
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Orofaciodigital syndrome 06
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Orofaciodigital syndrome 16
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TMEM107
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Orofaciodigital syndrome 9
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| 1. |
Darmency-Stamboul V et al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. 
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| 2. |
Lambacher NJ et al. (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
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| 3. |
Shylo NA et al. (2016) TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
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| 4. |
OMIM.ORG article Omim 617563
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