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Intellectual developmental "disorder," autosomal dominant 66
- ... 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 ...
- ... syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are ... that this condition is underdiagnosed.The incidence of autosomal dominant Opitz G/BBB syndrome is unknown. It is ...
- ... with Williams syndrome.Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome ...
- ... disease. GFAP This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... NODAL TDGF1 Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy ...
- ... from a parent, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... complex. TSC1 TSC2 Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of ...
- ... been identified have a severe form of the disorder, including microcephaly, severe developmental delay, and seizures beginning in infancy. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the ...
