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Intellectual "disability," autosomal dominant 29
- ... disorder SETBP1-related intellectual disability Genetic Testing Registry: Intellectual disability, autosomal dominant 29 Intellectual developmental disorder, autosomal dominant 29 National Organization ...
- ... Developmental and epileptic encephalopathy, 27 Genetic Testing Registry: Intellectual disability, autosomal dominant 6 National Organization for Rare Disorders (NORD) DEVELOPMENTAL ...
- ... 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 ...
- ... 10.1002/ajmg.a.38168. Epub 2017 Mar 29. Citation on PubMed
- ... 31 microdeletion syndrome phenotype. Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257. Citation on PubMed
- ... condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). ...
- ... lead to problems in the urinary tract.Mild intellectual disability and developmental delay occur in about 50 percent ... that this condition is underdiagnosed.The incidence of autosomal dominant Opitz G/BBB syndrome is unknown. It is ...
- ... addition to RB1, affected children usually also have intellectual disability, slow growth, and distinctive facial features (such as ... RB1 gene appear to be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy ...
- ... same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak ... with the duplication have no apparent physical or intellectual disabilities. The prevalence of the 22q11.2 duplication in ...
- ... normal range.People with Sotos syndrome often have intellectual disability, and most also have neurodevelopmental disorders. Conditions that ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one ...
