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Results 1 - 10 of 10 for Intellectual developmental "disorder," autosomal dominant 64
  1. HIVEP2-related intellectual disability 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43; MRD43 PubMed Dorflinger U, Pscherer A, Moser ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  2. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    National Human Genome Research Institute ... From the National Institutes of Health ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic Testing/Reference ...
    https://www.genome.gov/genetics-glossary - National Institutes of Health
  3. Coffin-Siris syndrome 
    ... brain, neurons, and possibly other tissues, leading to intellectual disability and other signs and symptoms of Coffin-Siris syndrome. ... Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  4. CACNA1A gene 
    ... channel trafficking and kinetics. Neurology. 2005 Jun 28;64(12):2090-7. doi: ... cerebellar ataxia (SCA6) associated with small polyglutamine expansions ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  5. Saethre-Chotzen syndrome 
    ... affected children are much more likely to have intellectual disability, developmental delay, and ... 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
  6. 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
  7. 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
  8. GLUT1 deficiency syndrome 
    ... SLC2A1 This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  9. Kabuki syndrome 
    ... the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  10. Myotonic dystrophy 
    ... types of myotonic dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics