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Results 1 - 10 of 14 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. Trichohepatoenteric syndrome 
    ... syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been ... medical literature. ...
    https://medlineplus.gov/.../condition/trichohepatoenteric-syndrome - Genetics
  3. ACAD9 deficiency 
    ... deficiency. ACAD9 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/acad9-deficiency - Genetics
  4. 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
  5. 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
  6. Frontonasal dysplasia 
    ... halves of the brain (the corpus callosum), and intellectual disability.There are at least three types of frontonasal ... or ALX3 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  7. Lissencephaly with cerebellar hypoplasia 
    ... RELN gene, the 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/.../lissencephaly-with-cerebellar-hypoplasia - Genetics
  8. Knobloch syndrome 
    ... In other conditions, encephaloceles may be associated with intellectual disability; however, most people with Knobloch syndrome have normal ... symptoms. COL18A1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/knobloch-syndrome - Genetics
  9. Marinesco-Sjögren syndrome 
    ... with Marinesco-Sjögren syndrome have mild to moderate intellectual disability. They also have skeletal abnormalities including short stature ... unknown. SIL1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/marinesco-sjogren-syndrome - Genetics
  10. Methylmalonic acidemia 
    ... thrive). Long-term complications can include feeding problems, intellectual disabilities, movement problems, chronic kidney disease, and inflammation of ...
    https://medlineplus.gov/genetics/condition/methylmalonic-acidemia - Genetics
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