OBO ID: DOID:0111590
Term Name: Cohen syndrome Search Ontology:
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 VPS13B on chromosome 8q22.2. (3)
References:
Ontology: Human Disease   (DOID:0111590)
OTHER Cohen syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VPS13B Cohen syndrome 216550
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None