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Results 1 - 10 of 34 for Spastic paraplegia 3
  1. Spastic paraplegia type 3A 
    ... inherits the mutation from one affected parent. Spastic paraplegia 3 Spastic paraplegia 3A SPG3A Genetic Testing Registry: Hereditary ... Organization for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A PubMed Alvarez V, Sanchez-Ferrero ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-3a - Genetics
  2. Kallmann syndrome 
    ... OR WITHOUT ANOSMIA; HH1 KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3 HYPOGONADOTROPIC HYPOGONADISM 4 ...
    https://medlineplus.gov/genetics/condition/kallmann-syndrome - Genetics
  3. Spastic paraplegia type 31 
    ... one to 12 per 100,000 individuals. Spastic paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant hereditary spastic paraplegia cases. Spastic paraplegia type 31 is caused by ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-31 - Genetics
  4. OPA3 gene 
    ... MGA3 MGC75494 OPA3 protein OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Tests of OPA3 PubMed OUTER MITOCHONDRIAL MEMBRANE LIPID ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  5. GJC2 gene 
    ... GAP JUNCTION PROTEIN, GAMMA-2; GJC2 LYMPHATIC MALFORMATION 3; LMPHM3 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 NCBI Gene ClinVar Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul JS, Bloom M, Evans SH, Goto YI, ... Mol Genet Metab. 2014 Mar;111(3):393-398. doi: 10.1016/j.ymgme.2013. ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  6. Spastic paraplegia type 11 
    ... encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-11 - Genetics
  7. SPG11 gene 
    ... encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/spg11 - Genetics
  8. Costeff syndrome 
    ... syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi Jewish optic atrophy plus MGA, type III MGA3 OPA3 defect Optic atrophy plus syndrome Genetic Testing Registry: 3-Methylglutaconic aciduria type 3 3-methylglutaconic aciduria type ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  9. Purine nucleoside phosphorylase deficiency 
    ... nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol. 2007 Jun;22(6):741-3. doi: 10.1177/0883073807302617. Citation on PubMed Somech ...
    https://medlineplus.gov/...urine-nucleoside-phosphorylase-deficiency - Genetics
  10. PNP gene 
    ... nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol. 2007 Jun;22(6):741-3. doi: 10.1177/0883073807302617. Citation on PubMed Somech ...
    https://medlineplus.gov/genetics/gene/pnp - Genetics
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