Developmental and epileptic encephalopathy, 2

Definition

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.

Also known as CDKL5 early infantile epileptic encephalopathy, DEE2, developmental and epileptic encephalopathy 2, X-linked dominant, developmental and epileptic encephalopathy, 2, early infantile epileptic encephalopathy caused by mutation in CDKL5, EIEE2, epileptic encephalopathy, early infantile, 2, epileptic encephalopathy, early infantile, type 2 — per MONDO

Also identified as

• DOID 0080467 per MONDO
• MESH C564064 per MONDO
• OMIM 300672 per MONDO
• Orphanet 505652 per MONDO
• UMLS C4750718 per MONDO