Metadata | |
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ID | DOID:0070045 |
Name | Coffin-Siris syndrome 3 |
Definition | A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. https://www.ncbi.nlm.nih.gov/pubmed/22426308 |
Xrefs | |
Synonyms |
autosomal dominant mental retardation 15 [EXACT] CSS3 [EXACT] MRD15 [EXACT] |
Parent Relationships |