Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 19 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. 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
  4. 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
  5. 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
  6. 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
  7. CHD2 myoclonic encephalopathy 
    ... recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 ...
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  8. 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
  9. Weaver syndrome 
    ... syndrome. EZH2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  10. Rubinstein-Taybi syndrome 
    ... 16 This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
previous · 1 · 2 · next