RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
This disease is characterized by poor pre- and postnatal growth, characteristic dysmorphic facial features, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual function. The phenotype represents a mild form of Wolf-Hirschhorn syndrome.
Synonyms:
exact_synonym:
NSD2-RELATED CONDITION; RAUST; WOLF-HIRSCHHORN LIKE SYNDROME
ClinVar Annotator: match by term: NSD2-related condition | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar Annotator: match by term: Wolf-Hirschhorn like syndrome