Cohen syndrome: What Patients Should Know
By Dr. Yasmin Adeyemi, MD · · Genetic Medicine
Our Genetic Medicine team put together this overview of Cohen syndrome for patients and families.
About this topic
Topic: Cohen syndrome. 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.
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This article is for general information and does not replace advice from your clinician.