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Results 1 - 10 of 18 for Intellectual "disability," autosomal recessive 44
  1. DOORS syndrome 
    ... not show signs and symptoms of the condition. ... Deafness-onychoosteodystrophy-intellectual disability syndrome Digitorenocerebral syndrome ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  2. 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
  3. GJC2 gene 
    ... 2; GJC2 LYMPHATIC MALFORMATION 3; LMPHM3 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 NCBI Gene ClinVar Gotoh L, Inoue K, ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  4. Trichohepatoenteric syndrome 
    ... syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been ... medical literature. ...
    https://medlineplus.gov/.../condition/trichohepatoenteric-syndrome - Genetics
  5. RELN gene 
    ... Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with ... Int J Biochem Cell Biol. 2012 Sep;44(9):1501-4. doi: 10.1016/j.biocel. ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  6. ACAD9 deficiency 
    ... can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of ... deficiency who survive past early childhood often have intellectual disability and may develop seizures. Rare signs and symptoms ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  7. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A. 2006 Jun 15; ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  8. Phosphoglycerate dehydrogenase deficiency 
    ... epilepsy as well as mild developmental delay and intellectual disability. Only one case of the adult form has ... symptoms began in mid-adulthood and included mild intellectual disability; difficulty coordinating movements (ataxia); and numbness, tingling, and ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  9. Lissencephaly with cerebellar hypoplasia 
    ... brainstem).Individuals with LCH have moderate to severe intellectual disability and delayed development. They have few or no ... RELN gene, the condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  10. Frontonasal dysplasia 
    ... or ALX3 gene, it 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/frontonasal-dysplasia - Genetics
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