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Cohen syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111590
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
