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Results 11 - 20 of 95 for Intellectual "disability," autosomal recessive 11
  1. Spastic paraplegia type 11 
    ... for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11 PubMed Denora PS, Schlesinger D, Casali C, ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-11 - Genetics
  2. POLR3B gene 
    ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  3. POLR3A gene 
    ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. UNC80 deficiency 
    ... Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  5. UNC80 gene 
    ... Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j.ajhg.2015.11.004. Epub 2015 Dec 17. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  6. Tyrosine hydroxylase deficiency 
    ... for Rare Disorders (NORD) ClinicalTrials.gov SEGAWA SYNDROME, AUTOSOMAL RECESSIVE PubMed Furukawa Y, Kish S. Tyrosine Hydroxylase Deficiency. 2008 Feb 8 [updated 2017 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  7. VLDLR-associated cerebellar hypoplasia 
    ... Rare Disorders (NORD) ClinicalTrials.gov ... JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
  8. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5. doi: 10.1038/72769. Citation on PubMed Gagnon C, Desrosiers J, Mathieu J. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: upper extremity aptitudes, ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  9. DOCK6 gene 
    ... M. DOCK6 mutations are responsible for a distinct autosomal-recessive ... In: Hum Mutat. 2015 Nov;36(11):1112. doi: 10.1002/humu.22830. Citation on ...
    https://medlineplus.gov/genetics/gene/dock6 - Genetics
  10. Trichothiodystrophy 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one ... Brittle hair-intellectual impairment-decreased fertility-short stature syndrome IBIDS PIBIDS ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
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