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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder