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.
Term:
NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
This disease is characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. Brain imaging is usually normal. Additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures (particularly febrile), and distal skeletal defects of the hands and feet