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Coffin-Siris syndrome 1
Summary
- Synonym
-
- CSS1
- MRD12
- autosomal dominant mental retardation 12
- fifth digit syndrome
- Definition
- A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.
- Super Class
- Coffin-Siris syndrome
External Links
- Disease Ontology
- DOID:0070042
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
