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.
A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. (DO)
Synonyms:
exact_synonym:
DEE16; EIEE16; early infantile epileptic encephalopathy 16
OMIM:615338 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 16 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16