Term Name:	Cohen syndrome
Synonyms:	COH1, Hypotonia, obesity, and prominent incisors, Pepper syndrome
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.
Ontology:	Human Disease [DOID:0111590]   ( DOID:0111590 )