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Results 1 - 10 of 17 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. 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
  3. Trichohepatoenteric syndrome 
    ... syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been ... medical literature. ...
    https://medlineplus.gov/.../condition/trichohepatoenteric-syndrome - Genetics
  4. 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
  5. 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
  6. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  7. 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
  8. Methylmalonic acidemia with homocystinuria 
    ... children with this condition have delayed development and intellectual disability, and some have an unusually small head size ( ... Methylmalonic acidemia with homocystinuria is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...ethylmalonic-acidemia-with-homocystinuria - Genetics
  9. 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
  10. Phosphoglycerate dehydrogenase deficiency 
    ... deficiency. PHGDH 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/...phosphoglycerate-dehydrogenase-deficiency - Genetics
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