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.