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- Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition ...
- Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members ...
- ... This Health Condition MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition Mutations ... such conditions are known as nephronophthisis-associated ciliopathies. Senior-Løken syndrome is characterized by the combination of ...
- ... This Health Condition MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition Several ... body systems and include Joubert syndrome, Meckel syndrome, Senior-Løken syndrome, and Bardet-Biedl syndrome (mentioned above). ...
- ... This Health Condition MedlinePlus Genetics provides information about Senior-Løken syndrome More About This Health Condition ATD5 ... mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 Aug;84(2): ...
- ... referred to as nephronophthisis-associated ciliopathies. For example, Senior-Løken syndrome is characterized by the combination of ...
- ... aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, Senior-Løken syndrome, Gorlin-Chaudhry-Moss syndrome, Down syndrome, ...