| Metadata | |
|---|---|
| ID | DOID:0070803 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070803 Copy |
| Name | Witteveen-Kolk syndrome |
| 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/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1187122000 |
| SKOS |
exactMatch ORDO:500163 exactMatch MIM:613406 exactMatch UMLS_CUI:C4310804 broadMatch ICD10CM:Q87.8 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |