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Results 1 - 5 of 5 for Spastic paraplegia "70," autosomal recessive
  1. ... More About This Health Condition FLJ21439 KIAA1840 spastic paraplegia 11 (autosomal recessive) SPATACSIN SPTCS_HUMAN Tests of SPG11 PubMed SPG11 ... SPATAX consortium. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower ...
  2. ... hydroxylase domain containing 1 FAXDC1 FLJ25287 SCS7 spastic paraplegia 35 (autosomal recessive) SPG35 Tests of FA2H PubMed FATTY ACID 2- ...
  3. ... spastic paraplegia 11 Genetic Testing Registry: Hereditary spastic paraplegia Autosomal recessive spastic paraplegia type 11 Hereditary spastic paraplegia National ...
  4. ... Organization for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION; SPG35 PubMed Arber CE, ...
  5. ... deficiency. PNP This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...