Cohen syndrome (DOID:0111590)
Alliance: disease page
Synonyms: COH1; Hypotonia, obesity, and prominent incisors; Pepper syndrome
Alt IDs: OMIM:216550, MESH:C536438, ORDO:193, UMLS_CUI:C0265223
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 the VPS13B gene on chromosome 8q22.2.