| 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 |
| Similar Terms | |
| Downloads & Tools |
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) |
