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Results 1 - 10 of 18 for Intellectual "disability," autosomal dominant 39
  1. PPP2R5D-related intellectual disability 
    ... disability and other neurological features of PPP2R5D-related intellectual disability. PPP2R5D This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
  2. Saethre-Chotzen syndrome 
    ... affected children are much more likely to have intellectual disability, developmental delay, and learning ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
  3. 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
  4. Familial focal epilepsy with variable foci 
    ... Citation on PubMed Baulac S. Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2. ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  5. Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)  
    Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy Association
    https://www.mda.org/disease/limb-girdle-muscular-dystrophy - External Health Links
  6. 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
  7. Sotos syndrome 
    ... normal range.People with Sotos syndrome often have intellectual disability, and most also have neurodevelopmental disorders. Conditions that ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  8. Centronuclear myopathy 
    ... muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.A key feature of centronuclear myopathy is the ... the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  9. CACNA1A gene 
    ... an unusually large head size (macrocephaly), tall stature, intellectual disability, seizures, ataxia, and other health problems. Researchers are ... encephalopathy caused by CACNA1A gene variants often experience intellectual disability, ataxia, nystagmus, and weak muscle tone (hypotonia). Studies ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  10. Polymicrogyria 
    ... of the condition.Polymicrogyria can also have an autosomal dominant inheritance pattern, which means one copy of the ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
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