Term Name: Coffin-Siris syndrome 10
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.
Ontology: Human Disease [DOID:0112371]   ( DOID:0112371 )

Relationships
is a type of: Coffin-Siris syndrome