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To explore the genotype-phenotype correlation of a Chinese pedigree affected with Lowe syndrome. Whole exome sequencing (WES) and Sanger sequencing were carried out for the proband and members of his pedigree. The proband, a 3-year-and-5-month-old male, presented with multiple anomalies including congenital cataract, glaucoma, brain dysplasia, renal dysfunction and cognitive impairment. WES revealed that he has harbored a novel hemizygous missense variant of the OCRL gene, namely NM_000276.3 c.1255TC (p.Trp419Arg) (GRCh37/hg19), whic
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