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Intellectual developmental "disorder," autosomal dominant 65
- ... disrupts normal brain development and leads to seizures, intellectual disability, and other features of encephalopathy that occur in this condition. KCNB1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... unclear how these changes lead to the particular developmental and physical features of MED13L syndrome. ... the altered MED13L gene in each cell is sufficient to cause the disorder. Most cases of this condition result from new ( ...
- ... the ubiquitin-proteasome system becomes impaired at key developmental stages. As a result, unnecessary ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... alteration. SH3BP2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... causes acanthosis nigricans. FGFR3 SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 ...
- ... Canning D, Zavod W, Quinn N, Rome J. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 ...
