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Results 71 - 80 of 95 for Intellectual "disability," autosomal recessive 11
  1. ALG1-congenital disorder of glycosylation 
    ... body systems.Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many ... tissues. ALG1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...alg1-congenital-disorder-of-glycosylation - Genetics
  2. CLN3 disease 
    ... development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen ...
    https://medlineplus.gov/genetics/condition/cln3-disease - Genetics
  3. PMM2-congenital disorder of glycosylation 
    ... PMM2-CDG who survive infancy may have moderate intellectual disability, and some are unable to walk independently. Affected ... tissues. PMM2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics
  4. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... muscle tone (hypotonia) in the torso, and mild intellectual disability.Distinct changes in the brains of people with ... involved. DARS1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  5. GM1 gangliosidosis 
    ... abnormalities. Affected children often have seizures and profound intellectual disability. People with GM1 gangliosidosis type I can lose ... disorders. GLB1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/gm1-gangliosidosis - Genetics
  6. Chanarin-Dorfman syndrome 
    ... loss, short stature, progressive muscle weakness (myopathy), and intellectual disabilities. Some people with Chanarin-Dorfman syndrome develop liver ... syndrome. ABHD5 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/chanarin-dorfman-syndrome - Genetics
  7. Walker-Warburg syndrome 
    ... the brain lead to significantly delayed development and intellectual disability. Some individuals with Walker-Warburg syndrome experience seizures. ... POMK RXYLT1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  8. Trichohepatoenteric syndrome 
    ... syndrome is associated with heart (cardiac) abnormalities. Mild intellectual disability has been reported in at least half of ... SKIC2 SKIC3 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/.../condition/trichohepatoenteric-syndrome - Genetics
  9. Fucosidosis 
    ... vary from person to person. Affected individuals have intellectual disabilities that worsen with age. Over time, people with ... disorders. FUCA1 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
    https://medlineplus.gov/genetics/condition/fucosidosis - Genetics
  10. Hereditary folate malabsorption 
    ... may develop neurological problems such as developmental delays, intellectual disabilities, seizures, and difficulty coordinating movements (ataxia). Abnormal deposits ...
    https://medlineplus.gov/.../hereditary-folate-malabsorption - Genetics
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