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Results 11 - 20 of 142 for Intellectual "disability," autosomal recessive 6
  1. 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
  2. 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
  3. Hennekam syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Genetic Testing Registry: Hennekam lymphangiectasia-lymphedema syndrome ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  4. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Birth Defects/Specifics ... Birth Defects ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  5. VLDLR gene 
    ... of the brain are also affected, resulting in intellectual disability and the other major features of this condition. More About This Health Condition ... A, Parboosingh JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J ...
    https://medlineplus.gov/genetics/gene/vldlr - Genetics
  6. CLN8 disease 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ... Finnish type National Organization for Rare Disorders ( ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  7. Limb-girdle muscular dystrophy 
    ... AUTOSOMAL RECESSIVE 7; LGMDR7 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6; LGMDR6 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
  8. Tyrosine hydroxylase deficiency 
    ... brain dysfunction that leads to profound physical and intellectual disabilities. Signs and symptoms typically begin in the first six months of life. Babies with this form of ...
    https://medlineplus.gov/.../tyrosine-hydroxylase-deficiency - Genetics
  9. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... Casali C, Santorelli FM. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491.66816.77. ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  10. Wiedemann-Rautenstrauch syndrome 
    ... Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet. 2018 Dec 6;103(6):968-975. doi: 10.1016/j. ...
    https://medlineplus.gov/.../wiedemann-rautenstrauch-syndrome - Genetics
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