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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 ...
- ... with the condition.TRPS II is considered an autosomal dominant condition because one copy of the altered chromosome ...
- ... heart abnormalities, urinary tract abnormalities, moderate to severe intellectual disability, abnormal muscle tone, and a distinctive facial appearance. ...
- ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
- ... 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 ...
- ... 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 ...
- ... or ADAR gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... syndrome. AFF4 CHOPS syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
