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Intellectual "disability," autosomal dominant 47
- ... autosomal dominant 43 MRD43 Genetic Testing ... by transcription factors MIBP1 and SEF-2 in the murine brain. Mol Cell Biol. 1999 May;19(5):3736-47. doi: 10.1128/MCB.19.5.3736. Citation ...
- ... causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat ... hyperhidrosis).Most individuals with TRPS II have mild intellectual disability. TRPS II is a rare condition; its prevalence ...
- ... heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, and a distinctive facial appearance. ...
- ... 22q13.3 deletion syndrome, such as developmental delay, intellectual disability, and absent or severely delayed speech. Additional genes ... disrupts the normal course of development, leading to intellectual disability and birth defects. Researchers are working to determine ...
- ... 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 ...
- ... identified physical or behavioral abnormalities.Developmental delay and intellectual disability can occur in people with a 16p11.2 ... duplication. chromosome 16 16p11.2 duplications have an autosomal dominant inheritance pattern, which means that a duplication in ...
- ... and skeletal abnormalities.Children with CHOPS syndrome have intellectual disability and delayed development of skills such as sitting ... syndrome. AFF4 CHOPS syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... gene, Aicardi-Goutières syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of ... 2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy ...
