Condition: Cortical visual impairment


rs752746786 in GNB1 gene and Cortical visual impairment PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs797045164 in KIF1A gene and Cortical visual impairment PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs1557043622 in SLC35A2 gene and Cortical visual impairment PMID 30817854 2019 SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.