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Results 1 - 10 of 22 for Intellectual "disability," autosomal dominant 33
  1. SYNGAP1-related intellectual disability 
    ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 SYNGAP1-related non-syndromic intellectual disability Disease ...
    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, ... 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 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. Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)  
    Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... MDA is the #1 health nonprofit ...
    https://www.mda.org/disease/limb-girdle-muscular-dystrophy - External Health Links
  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. 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
  10. Rubinstein-Taybi syndrome 
    ... condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first ... birth. Abnormal brain development is thought to underlie intellectual disability in people with Rubinstein-Taybi syndrome. Researchers have ...
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome - Genetics
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