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

• OMIM:618506

Ontology

Human Disease   ( DOID:0112371 )