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19
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Intellectual "Disability," Dominant
- ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than autosomal dominant.Most ALDH18A1 gene variants involved in cutis laxa ...
- ... have been found in several people with autosomal dominant nocturnal frontal lobe ... disability. The KCNT1 gene variants involved in this condition ...
- ... those with HDAC8 gene variants may have significant intellectual disability. More About This Health Condition A variant in ... Dutch family with a form of X-linked intellectual disability. (X-linked refers to the fact that the ...
- ... have been identified in some people who have intellectual disability. These affected individuals often have a brain malformation ... the folds are unusually small. In addition to intellectual disability, some affected individuals develop seizures and movement problems. ...
- ... have a particular combination of additional features, including intellectual disability, speech problems, anxiety, and an unusually small head ( ... signs and symptoms is sometimes called DYRK1A-related intellectual disability syndrome.DYRK1A gene mutations result in loss of ...
- ... characterized by moderate to severe developmental delay and intellectual disability and minor differences in facial features. Additionally, some ... delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet. 2013 Oct;21(10): ...
- ... an unusually large head size (macrocephaly), tall stature, intellectual disability, seizures, ataxia, and other health problems. Researchers are ... encephalopathy caused by CACNA1A gene variants often experience intellectual disability, ataxia, nystagmus, and weak muscle tone (hypotonia). Studies ...
- ... and coordinating movements (ataxia), and mild to moderate intellectual disability. The ITPR1 gene mutations that cause Gillespie syndrome ... while others also have the eye problems and intellectual disability characteristic of Gillespie syndrome (described above). Studies indicate ...
- ... causes bone and joint malformations; distinctive facial features; intellectual disability; and abnormalities of the skin, hair, teeth, sweat ...
- ... a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A loss of the MSX1 gene ...
