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Results 1 - 10 of 14 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. 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
  6. 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
  7. Arginine:glycine amidinotransferase deficiency 
    ... People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop ... brain. GATM This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency - Genetics
  8. Microcephaly, seizures, and developmental delay 
    ... some affected individuals are never able to speak. Intellectual disability and behavior problems, primarily hyperactivity, are also common ... role. PNKP This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...ocephaly-seizures-and-developmental-delay - Genetics
  9. ALG1-congenital disorder of glycosylation 
    ... body systems.Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many ... tissues. ALG1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...alg1-congenital-disorder-of-glycosylation - Genetics
  10. Oral-facial-digital syndrome 
    ... associated with brain abnormalities and some degree of intellectual disability.Abnormalities of the oral cavity that occur in ... oral-facial-digital syndrome are inherited in an autosomal recessive pattern, which suggests that both copies of a ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
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