OBO ID: DOID:0112371
Term Name: Coffin-Siris syndrome 10 Search Ontology:
Synonyms:
  • CSS10
Definition: A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. https://pubmed.ncbi.nlm.nih.gov/30661772/
References:
Ontology: Human Disease   ( DOID:0112371 )
OTHER Coffin-Siris syndrome 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SOX4 Coffin-Siris syndrome 10 618506
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None