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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 
    ... 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
  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. 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
  6. 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
  7. 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
  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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