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Summary Literature (0)
DOID:0112368 - Coffin-Siris syndrome 5

Disease Ontology Definition:A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2.

Synonyms: CSS5,

Xenbase Genes : smarce1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Coffin-Siris syndrome (is_a)