Results 21 -
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135
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Intellectual "disability," autosomal dominant 10
- ... autosomal dominant forms, although some people with autosomal dominant cutis laxa are severely affected. In addition to the features described above, people with autosomal recessive cutis laxa can have delayed development, intellectual disability, seizures, problems with movement, or eye or bone ...
- ... its function may lead to developmental delay and intellectual disability in KBG syndrome. However, the mechanism is not ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 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 9q22. ...
- ... 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 least ...
- ... of the PHF21A gene is the cause of intellectual disability and distinctive facial features in many people with the condition. The loss ... Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic ...
- ... extra copy of the RAI1 gene leads to intellectual disability and the other signs and symptoms of this condition. Extra ... This condition has an autosomal dominant pattern of inheritance, which means one copy of ...
- ... copy of LHX1 is thought to contribute to intellectual disability, behavioral and psychiatric conditions, and ... This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal ...
- ... affected children are much more likely to have intellectual disability, developmental delay, and learning ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... is unknown how SCN8A gene mutations lead to intellectual disability, movement problems, and the other ... This condition follows an autosomal dominant pattern of inheritance, which means one copy of ...
- ... 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 ...
