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Mental "retardation," autosomal dominant 29
- ... 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 ...
- 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 ...
- ... Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 Disease InfoSearch National Organization for Rare Disorders ( ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... one adult subtype of NCL is inherited as autosomal dominant trait.
- ... 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
- ... 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 ...
- ... 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 ...