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Results 1 - 10 of 37 for Intellectual "disability," autosomal dominant 29
  1. SETBP1 haploinsufficiency disorder 
    ... disorder SETBP1-related intellectual disability Genetic Testing Registry: Intellectual disability, autosomal dominant 29 Intellectual developmental disorder, autosomal dominant 29 National Organization ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics
  2. GRIN2B-related neurodevelopmental disorder 
    ... Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 National Organization for Rare Disorders (NORD) DEVELOPMENTAL ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  3. Osteopetrosis 
    ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Autosomal dominant osteopetrosis is the most common form of the ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  4. ALDH18A1 gene 
    ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than autosomal dominant.Most ALDH18A1 gene variants involved in cutis laxa ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  5. MED13L syndrome 
    ... 10.1002/ajmg.a.38168. Epub 2017 Mar 29. Citation on PubMed
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  6. Koolen-de Vries syndrome 
    ... 31 microdeletion syndrome phenotype. Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257. Citation on PubMed
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
  7. DYRK1A gene 
    ... AS. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  8. GCH1 gene 
    ... Hanna MG, Davis MB, Wood NW, Bhatia KP. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry. 2009 Aug;80(8):839-45. doi: 10.1136/jnnp.2008.155861. Epub 2009 Mar 29. Citation on PubMed
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  9. Chromosome 22 
    ... 88. doi: 10.1086/340363. Epub 2002 Mar 29. Citation on PubMed or Free article on PubMed Central McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, 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
  10. STXBP1 encephalopathy 
    ... condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
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