|OBO ID: DOID:0111590|
|Term Name:||Cohen syndrome||Search Ontology:|
|Definition:||A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in VPS13B on chromosome 8q22.2. (3)|
|Ontology:||Human Disease (DOID:0111590)|
|is a type of:||
OTHER Cohen syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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