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Results 1 - 10 of 39 for Intellectual "disability," autosomal recessive 27
  1. Osteopetrosis 
    ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a ... 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, occurring in an estimated 1 ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  2. Tetrahydrobiopterin deficiency 
    ... disrupts normal brain function. These abnormalities underlie the intellectual disability and other characteristic features of the condition. GCH1 PCBD1 PTS QDPR This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/tetrahydrobiopterin-deficiency - Genetics
  3. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... on PubMed Gagnon C, Desrosiers J, Mathieu J. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: upper extremity aptitudes, functional independence and social participation. Int J Rehabil Res. 2004 Sep;27(3):253-6. doi: 10.1097/00004356-200409000- ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  4. ACAD9 deficiency 
    ... causing complex I deficiency. Neuromuscul Disord. 2017 May;27(5):473-476. doi: 10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14. Citation on PubMed
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  5. 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
  6. Lissencephaly with cerebellar hypoplasia 
    ... Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246. Erratum In: Nat Genet 2001 Feb;27(2):225. Citation on PubMed Kumar RA, Pilz ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  7. 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
  8. Nijmegen breakage syndrome 
    ... respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.People with this condition ... affected children and adults have mild to moderate intellectual disability.Most affected woman have premature ovarian failure and ...
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome - Genetics
  9. SUCLA2-related mitochondrial DNA depletion syndrome 
    ... movements (dystonia), hearing loss, muscle wasting (atrophy), and intellectual disabilities. In most affected children, a substance called methylmalonic ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  10. Spastic paraplegia type 15 
    ... of weak muscle tone (hypotonia), difficulty walking, or intellectual disability. In almost all affected individuals, the tissue connecting ... 15. ZFYVE26 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-15 - Genetics
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