|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. (Orphanet Rare Disease Ontology, Orphanet_193)|
|Downloads & Tools|
1 genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|VPS13B||vacuolar protein sorting 13 homolog B (yeast)|