Version: 8.0.0
Date: Tue Jan 28 2025
Cohen syndrome
DOID:0111590
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Cohen 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.
Synonyms
  • COH1
  • Hypotonia, obesity, and prominent incisors
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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      Associated Models

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