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Metadata
ID DOID:0070046
Name Coffin-Siris syndrome 4
Definition A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.
https://www.ncbi.nlm.nih.gov/pubmed/22426308
Xrefs

MIM:614609

Synonyms

autosomal dominant mental retardation 16 [EXACT]

CSS4 [EXACT]

MRD16 [EXACT]

Parent Relationships

is_a Coffin-Siris syndrome

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