Analysis of STAG1 gene variants identified in a patient with intellectual disability and speech delay.

Abstract excerpt

Autosomal dominant intellectual developmental disorder (type 47) (OMIM #617635) is associated with heterozygous variants in the STAG1 gene (OMIM*604358). The main clinical manifestations include intellectual disability, delayed language development, abnormal facial features, epilepsy, etc. In this study, we performed the whole-exome sequencing (WES) on a 3-year-old child diagnosed with psychomotor developmental...

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