Whole-exome sequencing identified a novel heterozygous variant UBAP2L in a Chinese family with Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

UBAP2L-deficiency syndrome is an autosomal dominant disorder. The disease is caused by heterozygous variant in the UBAP2L gene (NM_014847.4, MIM 616472).Whole exome sequencing was performed and revealed a novel heterozygous frameshift variant in UBAP2Lin the proband.