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. (DO)
Coffin-Siris syndrome 11
Coffin-Siris syndrome 12
Coffin-Siris syndrome 2
Coffin-Siris syndrome 3
Coffin-Siris syndrome 4
Coffin-Siris syndrome 5
Coffin-Siris syndrome 6
Coffin-Siris syndrome 7
Coffin-Siris syndrome 8
Coffin-Siris syndrome 9
Synonyms
Exact Synonyms:
CSS10
;
IDDSDF
;
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES