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Summary Literature (0)
DOID:0111590 - Cohen syndrome


Disease 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.

Synonyms: COH1, Hypotonia, obesity, and prominent incisors, Pepper syndrome

In OMIM:
OMIM:216550 - COHEN SYNDROME; COH1


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : vps13b

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)