genetic developmental and epileptic encephalopathy
MONDO:0100062Mondo
Findings
No curated finding names genetic developmental and epileptic encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.
Definition from the Mondo Disease Ontology (MONDO:0100062), read 2026-09-29. CC BY 4.0.
Genes
62 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALG13HGNC:30881
- Definitive · ClinGen · X-linked · 2018
- AP3B2HGNC:567
- Definitive · ClinGen · Autosomal recessive · 2025
- ARXHGNC:18060
- Definitive · ClinGen · X-linked · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
- CACNA1EHGNC:1392
- Definitive · ClinGen · Autosomal dominant · 2023
- DNM1HGNC:2972
- Definitive · ClinGen · Autosomal dominant · 2024
- Moderate · ClinGen · Autosomal recessive · 2024
- DOCK7HGNC:19190
- Definitive · ClinGen · Autosomal recessive · 2021
- FGF12HGNC:3668
- Definitive · ClinGen · Autosomal dominant · 2023
- FLNAHGNC:3754
- Definitive · G2P · X-linked · 2025
- FRRS1LHGNC:1362
- Definitive · ClinGen · Autosomal recessive · 2024
- GABRB3HGNC:4083
- Definitive · ClinGen · Autosomal dominant · 2019
- GNAO1HGNC:4389
- Definitive · ClinGen · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- ITPAHGNC:6176
- Definitive · ClinGen · Autosomal recessive · 2024
- KCNA1HGNC:6218
- Definitive · G2P · Autosomal dominant · 2026
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal recessive · 2025
- KCNA2HGNC:6220
- Definitive · ClinGen · Autosomal dominant · 2022
- KCNC2HGNC:6234
- Definitive · ClinGen · Autosomal dominant · 2023
- KCTD3HGNC:21305
- Definitive · LiferaOmics · Autosomal recessive · 2026
- PACS2HGNC:23794
- Definitive · ClinGen · Autosomal dominant · 2024
- PLCB1HGNC:15917
- Definitive · ClinGen · Autosomal recessive · 2020
- SCN1AHGNC:10585
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SCN1BHGNC:10586
- Definitive · ClinGen · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
- SCN3AHGNC:10590
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · Illumina · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SLC25A22HGNC:19954
- Definitive · ClinGen · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- SNAP25HGNC:11132
- Definitive · ClinGen · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- SPTAN1HGNC:11273
- Definitive · ClinGen · Autosomal dominant · 2019
- STXBP1HGNC:11444
- Definitive · ClinGen · Autosomal dominant · 2017
- SYNJ1HGNC:11503
- Definitive · ClinGen · Autosomal recessive · 2022
- SZT2HGNC:29040
- Definitive · ClinGen · Autosomal recessive · 2021
- UBA5HGNC:23230
- Definitive · ClinGen · Autosomal recessive · 2025
- WWOXHGNC:12799
- Definitive · ClinGen · Autosomal recessive · 2021
- SIK1HGNC:11142
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2024
- TMEM63BHGNC:17735
- Strong · PanelApp Australia · Autosomal dominant · 2025
- ZFHX3HGNC:777
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ABATHGNC:23
- Moderate · ClinGen · Autosomal recessive · 2022
- CSTBHGNC:2482
- Moderate · ClinGen · Autosomal recessive · 2020
- CUX2HGNC:19347
- Moderate · ClinGen · Autosomal dominant · 2023
- GLULHGNC:4341
- Moderate · ClinGen · Autosomal dominant · 2025
- NECAP1HGNC:24539
- Moderate · ClinGen · Autosomal recessive · 2023
- CASKHGNC:1497
- Supportive · Orphanet · Autosomal dominant · 2021
- CDKL5HGNC:11411
- Supportive · Orphanet · Autosomal dominant · 2021
- DMXL2HGNC:2938
- Supportive · Orphanet · Autosomal dominant · 2021
- NEUROD2HGNC:7763
- Supportive · Orphanet · Autosomal dominant · 2021
- PIGPHGNC:3046
- Supportive · Orphanet · Autosomal dominant · 2021
- PIGQHGNC:14135
- Supportive · Orphanet · Autosomal dominant · 2021
- PNKPHGNC:9154
- Supportive · Orphanet · Autosomal dominant · 2021
- SCN2AHGNC:10588
- Supportive · Orphanet · Autosomal dominant · 2021
- TRIM8HGNC:15579
- Supportive · Orphanet · Autosomal dominant · 2021
- ARHGEF15HGNC:15590
- Limited · Ambry Genetics · Autosomal dominant · 2018
- ATP6V0CHGNC:855
- Limited · Ambry Genetics · Autosomal dominant · 2020
- CAMK2GHGNC:1463
- Limited · Ambry Genetics · Autosomal dominant · 2020
- CELSR1HGNC:1850
- Limited · Ambry Genetics · Autosomal recessive · 2025
- CSNK1EHGNC:2453
- Limited · Ambry Genetics · Autosomal dominant · 2018
- GABRA4HGNC:4078
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · Illumina · Autosomal dominant · 2023
- GABRB1HGNC:4081
- Limited · ClinGen · Autosomal dominant · 2024
- GABRG1HGNC:4086
- Limited · G2P · Autosomal dominant · 2022
- Limited · PanelApp Australia · Autosomal dominant · 2025
- GTF3C3HGNC:4666
- Limited · Ambry Genetics · Autosomal recessive · 2025
- HGNC:1399HGNC:1399
- Limited · Ambry Genetics · Autosomal dominant · 2020
- KCNQ3HGNC:6297
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · ClinGen · Autosomal recessive · 2023
- MAGI2HGNC:18957
- Limited · G2P · Autosomal dominant · 2025
- RYR3HGNC:10485
- Limited · ClinGen · Autosomal dominant · 2023
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025
- SLC12A5HGNC:13818
- Limited · ClinGen · Autosomal recessive · 2023
- ST7HGNC:11351
- Limited · Ambry Genetics · Autosomal recessive · 2018
- USP8HGNC:12631
- Limited · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- Narrower terms (106)
- developmental and epileptic encephalopathy 100
- developmental and epileptic encephalopathy 101
- developmental and epileptic encephalopathy 102
- developmental and epileptic encephalopathy 103
- developmental and epileptic encephalopathy 104
- developmental and epileptic encephalopathy 105 with hypopituitarism
- developmental and epileptic encephalopathy 106
- developmental and epileptic encephalopathy 107
- developmental and epileptic encephalopathy 6B
- developmental and epileptic encephalopathy 89
- developmental and epileptic encephalopathy 91
- developmental and epileptic encephalopathy 92
- developmental and epileptic encephalopathy 93
- developmental and epileptic encephalopathy 96
- developmental and epileptic encephalopathy 97