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Results 1 - 10 of 21 for Intellectual "disability," autosomal dominant 33
  1. SYNGAP1-related intellectual disability 
    ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 National ...
    https://medlineplus.gov/.../syngap1-related-intellectual-disability - Genetics
  2. Au-Kline syndrome 
    ... particular, problems with brain development likely contribute to intellectual disability, delayed development, and other neurological problems in people with the condition. HNRNPK This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/au-kline-syndrome - Genetics
  3. Neuronal ceroid lipofuscinoses (NCL) 
    ... adult subtype of NCL is inherited as an autosomal dominant trait.
    https://medlineplus.gov/ency/article/001613.htm - Medical Encyclopedia
  4. Cutis laxa 
    ... autosomal dominant forms, although some people with autosomal dominant cutis laxa are severely affected. In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone ...
    https://medlineplus.gov/genetics/condition/cutis-laxa - Genetics
  5. Smith-Kingsmore syndrome 
    ... and development and synaptic plasticity, leading to macrocephaly, intellectual disability, seizures, and other ... syndrome follows an autosomal dominant inheritance pattern, which means one copy of the ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  6. Pitt-Hopkins syndrome 
    ... cause Pitt-Hopkins syndrome. Hum Mutat. 2012 Dec;33(12):1676-86. doi: 10.1002/humu.22160. Epub 2012 Jul 27. Citation on PubMed Sweatt JD. Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  7. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... Registry: Blepharophimosis - intellectual disability syndrome, SBBYS type ... distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. ...
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  8. Weaver syndrome 
    ... large head size (macrocephaly), a variable degree of intellectual disability (usually mild), and characteristic facial features. These features ... the relationship between these brain abnormalities and the intellectual disability associated with Weaver syndrome is unclear.Researchers suggest ...
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  9. Genitopatellar syndrome 
    ... of genitopatellar syndrome. KAT6B This condition has an autosomal dominant inheritance pattern, which means one copy of the ...
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
  10. CHD2 myoclonic encephalopathy 
    ... CHD2 myoclonic encephalopathy. CHD2 This condition is considered autosomal dominant, which means one copy of the altered gene ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
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