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Results 1 - 10 of 49 for Intellectual "disability," autosomal recessive 14
  1. Kaufman oculocerebrofacial syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... Genetic ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  2. RAB18 deficiency 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically ... syndrome Micro syndrome National Organization for Rare ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  3. Prolidase deficiency 
    ... may also contribute to the skin problems. The intellectual disability that occurs in prolidase deficiency ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
  4. Limb-girdle muscular dystrophy 
    ... MDDGC4 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18; LGMDR18 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
  5. Frontonasal dysplasia 
    ... and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet. 2010 May 14;86(5):789-96. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  6. ACAD9 deficiency 
    ... j.nmd.2017.02.005. Epub 2017 Feb 14. Citation on PubMed
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  7. Nijmegen breakage syndrome 
    ... 1007/s10875-015-0186-9. Epub 2015 Aug 14. Citation on PubMed
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome - Genetics
  8. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... year follow-up. Neurology. 2018 Oct 2;91(14):e1307-e1311. doi: ... recessive spastic ataxia of Charlevoix-Saguenay type. Neurology. 2004 ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  9. Nonketotic hyperglycinemia 
    ... unclear how these abnormalities contribute to the developmental disability, seizures, breathing ... hyperglycinemia is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/nonketotic-hyperglycinemia - Genetics
  10. Spastic paraplegia type 15 
    ... thin corpus callosum. Neurology. 2009 Oct 6;73(14):1111-9. doi: ... autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
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