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Intellectual "disability," autosomal dominant 53
- ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 National ...
- ... myoclonic-atonic seizures. Epilepsy Behav. 2015 Oct;51:53-6. doi: 10.1016/j.yebeh.2015.06.029. Epub 2015 Aug 7. Citation on PubMed
- ... I, Bitar WE, de Lourdes Ramirez-Duenas M. Autosomal dominant inheritance in Cantu syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). Am J Med Genet. 2000 Oct 23;94(5):421-7. doi: 10.1002/1096-8628(20001023)94:53.0.co;2-9. Citation on PubMed Robertson ...
- ... psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are ... DEPDC5 NPRL2 NPRL3 FFEVF is inherited in an autosomal dominant pattern, which means one copy of an altered ...
- ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
- ... and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed ... syndrome's characteristic signs (such as developmental delay, intellectual disability, and impaired speech). Additional genes in the deleted ...
- ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
- ... and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one ... mild symptoms of the disorder.Some cases of autosomal dominant or type X Charcot-Marie-Tooth disease result ...
- ... abnormalities in the inner ear (sensorineural deafness), mild intellectual disability, and extra folds of skin on the back ... syndrome with multiple lentigines is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... the brain cause seizures, profound developmental delay, and intellectual disability. Several affected individuals also have had episodes in ... causes acanthosis nigricans. FGFR3 SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 ...
