DISEASES

Disease-gene associations mined from literature

Human genes for Cohen syndrome

Cohen syndrome [DOID:0111590]

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:  Cohen syndrome,  Cohen disease,  Cohen disorder,  Cohen syndromes,  DOID:0111590 ...