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INTELLECTUAL DEVELOPMENTAL "DISORDER," AUTOSOMAL DOMINANT 75
- ... 15 ... and other characteristic features.In about 75 percent of cases, individuals with 15q13.3 microdeletion ...
- ... 9 9q22.3 microdeletions are inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 9 in each cell is sufficient to cause delayed development, intellectual disability, and the features of Gorlin syndrome.A ...
- ... PRKAB2 1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms.In at ...
- ... and development and synaptic plasticity, leading to macrocephaly, intellectual disability, seizures, and other ... syndrome follows an autosomal dominant inheritance pattern, which means one copy of the ...
- ... with Williams syndrome.Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome ...
- ... CHD2 myoclonic encephalopathy. CHD2 This condition is considered autosomal dominant, which means one copy of the altered gene ...
- ... 2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy ...
- ... duplication. chromosome 16 16p11.2 duplications have an autosomal dominant inheritance pattern, which means that a duplication in ...
- ... Baraitser syndrome. SMARCA2 Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of ...
- ... SCN1B SCN2A STX1B GEFS+ is inherited in an autosomal dominant pattern, which means one copy of the altered ...
