Koolen-de Vries syndrome: neurological features
Evidence-based neurology checklist on koolen-de vries syndrome: neurological features: Genetics and epidemiology This is caused by microdeletions in the KANSL1 gene on chromosome 17q The prevalence is 1 in 16,000 The onset is in early childhood but adult-onset cases have been reported Epilepsy…
Genetics and epidemiology
- This is caused by microdeletions in the KANSL1 gene on chromosome 17q
- The prevalence is 1 in 16,000
- The onset is in early childhood but adult-onset cases have been reported
Epilepsy
Developmental features
Craniofacial dysmorphism
Other features
Magnetic resonance imaging (MRI): features
Electroencephalogram (EEG): features
References
- Koolen DA, Sharp AJ, Hurst JA, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 2008; 45:710-720.
- Mickelson EC, Robinson WP, Hrynchak MA, Lewis ME. Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24). Am J Med Genet 1997; 71:275-279.
- Wray CD. 17q21.31 microdeletion associated with infantile spasms. Eur J Med Genet 2013; 56:59-61.
- Sharkey FH, Morrison N, Murray R, et al. 17q21.31 microdeletion syndrome: further expanding the clinical phenotype. Cytogenet Genome Res 2009; 127:61-66.
- Koolen DA, Pfundt R, Linda K, et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet 2016; 24:652-659.
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