Witteveen-Kolk syndrome

Term ID

DOID:0070803

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/33437032/

References

• MIM:613406
• ORDO:500163
• SNOMEDCT_US_2026_03_01:1187122000
• UMLS_CUI:C4310804

Ontology

Human Disease   ( DOID:0070803 )