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Paper Details

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
16
2021
1p36 microdeletion region, CHD-related disorders, CHD5, CHD5 variants, Epilepsy, NuRD), West syndrome, autosomal dominant neurodevelopmental disorders, behavioral disturbances, chromodomain (CHD) genes, chromodomain helicase DNA-binding protein 5, chromodomain helicase DNA-binding protein 5 (CHD5) gene, craniosynostosis, dominant neurodevelopmental disorder, epilepsy, frameshift variant, generalized tonic-clonic seizures, intellectual disability, intellectual disability with speech delay, language deficits, learning disabilities, motor delay, neurodevelopmental syndrome, patient, patients, speech delay
Author NameAffiliation
Elsa LeitãoInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen
Heidi CopeDuke University School of Medicine
Vandana ShashiDuke University School of Medicine
Jennifer FriedmanRady Children's Hospital, university of california san diego, San Diego and Rady Children's Institute for Genomic Medicine
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Release 1.2