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Results 1 - 10 of 28 for Rare disease with autism
  1. Cowden syndrome 
    ... can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social ...
    https://medlineplus.gov/genetics/condition/cowden-syndrome - Genetics
  2. Adenylosuccinate lyase deficiency 
    ... of the condition. Adenylosuccinase deficiency ADSL deficiency Succinylpurinemic autism ... Lde Z, Lee P, Antonopoulos C, Colman RF. Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. Biochemistry. 2009 Jun ...
    https://medlineplus.gov/.../adenylosuccinate-lyase-deficiency - Genetics
  3. CUL3-related neurodevelopmental disorder 
    ... walking. Some individuals with this condition may have autism spectrum disorder, a developmental condition that affects communication ... their family. NEDAUS Neurodevelopmental disorder with or without autism or seizures Genetic Testing Registry: Neurodevelopmental disorder with ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  4. PTEN gene 
    ... large head size and the characteristic features of autism spectrum disorder, which affects communication and social interaction. ... gene are related to the risk of developing autism spectrum disorder. Some of these mutations have also ...
    https://medlineplus.gov/genetics/gene/pten - Genetics
  5. Alpha-N-acetylgalactosaminidase deficiency 
    ... seizures that begin in infancy; and features of autism spectrum disorder that appear in childhood. Autism spectrum disorder is characterized by impaired communication and ...
    https://medlineplus.gov/...lpha-n-acetylgalactosaminidase-deficiency - Genetics
  6. SLC6A3 gene 
    ... factors for attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). ADHD, which typically begins in ... A. SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. Transl ...
    https://medlineplus.gov/genetics/gene/slc6a3 - Genetics
  7. 17q12 deletion syndrome 
    ... reported in people with 17q12 deletion syndrome include autism spectrum disorder (which affects social interaction and communication), ... copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet. 2010 Nov ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  8. UBE3A gene 
    ... of neurological problems, including intellectual disability, seizures, and autism spectrum disorder. Unlike variants involved in Angelman syndrome, ... PubMed Louros SR, Osterweil EK. Perturbed proteostasis in autism spectrum disorders. J Neurochem. 2016 Dec;139(6): ...
    https://medlineplus.gov/genetics/gene/ube3a - Genetics
  9. Timothy syndrome 
    ... with Timothy syndrome have the characteristic features of autism spectrum disorders. Affected children tend to have impaired ... dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004 Oct 1;119(1):19-31. ...
    https://medlineplus.gov/genetics/condition/timothy-syndrome - Genetics
  10. Chromosome 17 
    ... by developmental delays, mild to moderate intellectual disabilities, autism spectrum disorder (which affects social interaction and communication), ... dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr;80( ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
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