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Results 1 - 10 of 42 for Mental "retardation," autosomal dominant 29
  1. ... no history of the disorder in their family. Mental retardation, autosomal dominant 29 MRD29 SETBP1 disorder SETBP1 LoF syndrome SETBP1 loss ... disorder SETBP1-related intellectual disability Genetic ... 29 SETBP1 disorder Disease InfoSearch National Organization for Rare ...
  2. The DYRK1A gene provides instructions for making an enzyme that is important in the development of the nervous system. The DYRK1A enzyme is a kinase, which ...
  3. ... Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 Disease InfoSearch National Organization for Rare Disorders ( ...
  4. ... Citation on PubMed Meira T, Soares-Fernandes JP. Autosomal Dominant Osteopetrosis. N Engl J Med. 2022 Sep 29;387(13):e27. doi: 10.1056/NEJMicm2202055. Epub ...
  5. ... 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 ...
  6. ... from a parent, it is inherited in an autosomal dominant pattern, which means one copy of the ... retardation syndrome Chromosome 2q37 deletion syndrome (disorder) Deletion 2q37 ...
  7. ... one adult subtype of NCL is inherited as autosomal dominant trait.
  8. ... 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
  9. ... 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 ...
  10. ... syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are ... that this condition is underdiagnosed.The incidence of autosomal dominant Opitz G/BBB syndrome is unknown. It is ...
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