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Results 1 - 4 of 4 for Intellectual developmental "disorder," autosomal dominant 69
  1. KCNB1 encephalopathy 
    ... disrupts normal brain development and leads to seizures, intellectual disability, and other features of encephalopathy that occur in this condition. KCNB1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy - Genetics
  2. MED13L syndrome 
    ... unclear how these changes lead to the particular developmental and physical features of MED13L syndrome. ... the altered MED13L gene in each cell is sufficient to cause the disorder. Most cases of this condition result from new ( ...
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  3. Aicardi-Goutières syndrome 
    ... or ADAR gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  4. CACNA1A gene 
    ... Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics