Cohen syndrome

Term ID

DOID:0111590

Synonyms

• 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. (3)

References

• GARD:6126
• MEDDRA:10049066
• MESH:C536438
• OMIM:216550
• ORDO:193
• SNOMEDCT_US_2023_03_01:56604005
• UMLS_CUI:C0265223

Ontology

Human Disease   ( DOID:0111590 )