For the clinical diagnosis of<unk> , minimal diagnostic criteria have been established, including motor and cognitive delays, epilepsy with onset within the first year of life, and the presence of a pathogenic or likely-pathogenic mutation of the<unk>  gene. While initial diagnosis is based mostly on clinical suspicion, definitive diagnosis requires confirmation by genetic testing. The first presentation of epileptic seizures within the first few months of life would suggest a possible diagnosis of CDD. Initial clinical testing for differential diagnosis may include MRI and CSF testing for structural or infectious etiologies; however,<unk>  is now widely included in DNA sequence-based molecular diagnostic gene panels or infantile epilepsy for more rapid and precise diagnosis. Note: many adolescents and young adults may have CDD but were never tested since such tests were not available when they were infants. Therefore, epilepsy panels for CDD and other genes should be considered in such individuals. A diagnostic ICD-10 code has been assigned to<unk> : G40.42 (since 2020).
CDKL5 deficiency disorder
NGLY1 deficiency
LRBA deficiency
ATR-16 syndrome
ZC4H2 deficiency
HUPRA syndrome
PGM3 deficiency
ATR-X syndrome