Cohen syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/216550
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Genes

1 genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
VPS13B vacuolar protein sorting 13 homolog B (yeast)