| Term Name: | Witteveen-Kolk syndrome |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0070803] ( DOID:0070803 ) |