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Metadata
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

OMIM:614608

Synonyms

autosomal dominant mental retardation 15 [EXACT]

CSS3 [EXACT]

MRD15 [EXACT]

Parent Relationships

is_a Coffin-Siris syndrome

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