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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

MIM:618506

Synonyms

CSS10 [EXACT]

Parent Relationships

is_a Coffin-Siris syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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