Metadata | |
---|---|
ID | DOID:0112371 |
Name | Coffin-Siris syndrome 10 |
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/ |
Xrefs | |
Synonyms |
CSS10 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |