XRL
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=1) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Developmental and epileptic encephalopathy, 2 |
• CDKL5 deficiency disorder • CDKL-5 Related Epileptic Encephalopathy • Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy • CDKL5-DEE - cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy • CDKL5-DEE - CDKL5 - developmental and epileptic encephalopathy • CDKL5 developmental and epileptic encephalopathy) • DEE2 • INFANTILE SPASM SYNDROME, X-LINKED 2 |
Neurodevelopmental disorders |
CDKL5 cyclin dependent kinase like 5 WWOX WW domain containing oxidoreductase NECAP1 NECAP endocytosis associated 1 DOCK7 dedicator of cytokinesis 7 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 SLC13A5 solute carrier family 13 member 5 KCNB1 potassium voltage-gated channel subfamily B member 1 GRIN2B glutamate ionotropic receptor NMDA type subunit 2B AARS1 alanyl-tRNA synthetase 1 SNAP25 synaptosome associated protein 25 |
Reports Updated as of Aug 17, 2026 |
PubMed |