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 ...