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Intellectual "disability," autosomal dominant 5
- ... 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 ...
- ... Urban Z. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat. 2011 Apr;32(4): ...
- ... 63.11.1605. Citation on PubMed Segawa M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J. 2009 Jan- ...
- ... the structures that form the eye (coloboma), and intellectual disabilities. The condition is found primarily in the First Nations communities in the Canadian ... ClinVar Clemen CS, Tangavelou K, ...
- ... 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 ...
- ... structures do not develop properly. This leads to intellectual disabilities, delays in overall development, movement problems, and other ... Michelucci R, Nobile C. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 ...
- ... 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 ...
- ... a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A loss of the MSX1 gene ... Lin BP, Hu JC. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J Dent Res. 2006 Mar;85(3): ...
- ... short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people ...
