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Disease Ontology Browser
Witteveen-Kolk syndrome (DOID:0070803)
Alliance: disease page
Alt IDs: OMIM:613406, ORDO:500163, UMLS_CUI:C4310804
Definition: An autosomal dominant intellectual developmental disorder characterized by distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging that has_material_basis_in heterozygous mutation in the SIN3A gene on chromosome 15q24.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/01/2026
MGI 6.24 		The Jackson Laboratory