Article
Paroxysmal oculogyric dystonia associated with a de novo 3q29 microdeletion.
Psychiatric genetics - 1 Aug 2020
Kaur Harsimran, Thom Robyn P, Neumeyer Ann M, Bilancia Colleen G, Wray Shirley H, McDougle Christopher J
Abstract excerpt
3q29 deletion syndrome is caused by a heterozygous 1.6 Mb deletion on chromosome 3, which occurs in about 1 in 30 000 births. Phenotypic features of this syndrome include mild-to-moderate intellectual disability, autism spectrum disorder, slightly dysmorphic facial features, ataxic gait, and chest-wall deformity. Gastrointestinal disorders, dental abnormalities, feeding problems during infancy, recurrent ear...
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