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Results 1 - 10 of 16 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. ... 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 
    ... it can have an autosomal dominant or an autosomal recessive pattern of inheritance.Autosomal dominant inheritance means one ... each cell is sufficient to cause the disorder.Autosomal recessive inheritance means both copies of a gene in ...
    https://medlineplus.gov/.../combined-pituitary-hormone-deficiency - 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. Congenital hyperinsulinism 
    ... form of congenital hyperinsulinism 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/.../condition/congenital-hyperinsulinism - Genetics
  8. Arginine:glycine amidinotransferase deficiency 
    ... brain. GATM 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/...nineglycine-amidinotransferase-deficiency - Genetics
  9. Arginase deficiency 
    ... deficiency. ARG1 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/genetics/condition/arginase-deficiency - Genetics
  10. ALG1-congenital disorder of glycosylation 
    ... tissues. ALG1 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/...alg1-congenital-disorder-of-glycosylation - Genetics
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