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Results 1 - 8 of 8 for Intellectual developmental "disorder," autosomal dominant 65
  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. CUL3-related neurodevelopmental disorder 
    ... the ubiquitin-proteasome system becomes impaired at key developmental stages. As a result, unnecessary ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  4. Williams Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic Disorders/Specifics ... Genetic Disorders ... Genetic and Rare Diseases Information Center ...
    https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome - External Health Links
  5. Landau-Kleffner Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Aphasia/Children ... Aphasia ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information about Landau- ...
    https://rarediseases.info.nih.gov/.../6855/landau-kleffner-syndrome - External Health Links
  6. Cherubism 
    ... alteration. SH3BP2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/cherubism - Genetics
  7. SADDAN 
    ... causes acanthosis nigricans. FGFR3 SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 ...
    https://medlineplus.gov/genetics/condition/saddan - Genetics
  8. Chromosome 22 
    ... Canning D, Zavod W, Quinn N, Rome J. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics