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Spastic paraplegia "82," autosomal recessive
- ... encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002. doi: 10.1016/j.ajhg. ...
- ... encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002. doi: 10.1016/j.ajhg. ...
- ... Organization for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A PubMed Arnoldi A, Crimella C, Tenderini E, ...
- ... 3-methylglutaconic aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi Jewish optic atrophy plus MGA, type III ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of ... Genetic Testing Registry: Hereditary spastic paraplegia Genetic Testing ...