OBO ID: DOID:0111590 |
Term Name: | Cohen syndrome | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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: |
|
||
Ontology: | Human Disease ( DOID:0111590 ) |
OTHER Cohen syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.