Developmental and epileptic encephalopathy, 30

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.

Also known as DEE30, developmental and epileptic encephalopathy 30, early infantile epileptic encephalopathy caused by mutation in SIK1, EIEE30, epileptic encephalopathy, early infantile, 30, epileptic encephalopathy, early infantile, type 30, SIK1 early infantile epileptic encephalopathy — per MONDO

Also identified as

• DOID 0080465 per MONDO
• OMIM 616341 per MONDO
• UMLS C4225360 per MONDO