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Metadata
ID DOID:0070042
Name Coffin-Siris syndrome 1
Definition A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3.
https://www.ncbi.nlm.nih.gov/pubmed/22405089
Xrefs

OMIM:135900

Synonyms

autosomal dominant mental retardation 12 [EXACT]

CSS1 [EXACT]

fifth digit syndrome [EXACT]

MRD12 [EXACT]

Parent Relationships

is_a Coffin-Siris syndrome

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