Search Ontology:
Human Disease

Coffin-Siris syndrome 10

Term ID
DOID:0112371
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models