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Results 1 - 10 of 17 for Intellectual "disability," autosomal recessive 51
  1. Mabry syndrome 
    ... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  2. Sjögren-Larsson syndrome 
    ... myelin can lead to neurological problems such as intellectual disability and walking difficulties. The cause of the eye ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  3. 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.ajhg.2011.10.003. ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  4. 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.ajhg.2011.10.003. ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  5. Combined pituitary hormone deficiency 
    ... Rarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, ... it can have an autosomal dominant or an autosomal recessive pattern of inheritance.Autosomal dominant inheritance means one ...
    https://medlineplus.gov/.../combined-pituitary-hormone-deficiency - Genetics
  6. Mucolipidosis III alpha/beta 
    ... half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/ ... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  7. Arginase deficiency 
    ... developmental delays and eventual loss of developmental milestones, intellectual disabilities, seizures, tremors, and difficulty with balance and coordination ( ...
    https://medlineplus.gov/genetics/condition/arginase-deficiency - Genetics
  8. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Birth Defects/Reference Desk ... Birth Defects ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic ...
    https://www.genome.gov/genetics-glossary - External Health Links
  9. Congenital hyperinsulinism 
    ... for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.The severity ... form of congenital hyperinsulinism is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/congenital-hyperinsulinism - Genetics
  10. Rhizomelic chondrodysplasia punctata 
    ... GNPAT PEX7 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
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