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Results 1 - 10 of 62 for Intellectual "disability," autosomal recessive 30
  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. Aromatic l-amino acid decarboxylase deficiency 
    ... of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency. DDC This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  3. Autosomal recessive primary microcephaly 
    ... reduced brain size underlies the small head size, intellectual disability, and developmental delays seen in many affected individuals. ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../autosomal-recessive-primary-microcephaly - Genetics
  4. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  5. VLDLR-associated cerebellar hypoplasia 
    ... Rare Disorders (NORD) ClinicalTrials.gov ... 2009 Oct;24(10):1310-5. doi: 10.1177/0883073809332696. Epub 2009 Mar 30. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../vldlr-associated-cerebellar-hypoplasia - Genetics
  6. 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
  7. Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)  
    Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Muscular Dystrophy Association
    https://www.mda.org/disease/limb-girdle-muscular-dystrophy - External Health Links
  8. Galactosemia 
    ... and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems. Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. Galactosemia type II ...
    https://medlineplus.gov/genetics/condition/galactosemia - Genetics
  9. Sepiapterin reductase deficiency 
    ... symptoms including an unusually small head size (microcephaly), intellectual disability, seizures, excessive sleeping, and mood swings. Sepiapterin reductase deficiency appears to be a rare condition. At least 30 cases have been described in the scientific literature. ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  10. ZFYVE26 gene 
    ... cells separate from one another (cytokinesis). More than 30 mutations in the ZFYVE26 gene have been found to cause spastic paraplegia type 15. This condition is characterized by progressive movement problems, intellectual disability, and vision problems. Many of the ZFYVE26 gene ...
    https://medlineplus.gov/genetics/gene/zfyve26 - Genetics
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