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Disease	Synonyms	Description
developmental and epileptic encephalopathy 18	early infantile epileptic encephalopathy 18; DEE18.. [+] early infantile epileptic encephalopathy 18; DEE18 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. [-]
developmental and epileptic encephalopathy 15	early infantile epileptic encephalopathy 15; DEE15.. [+] early infantile epileptic encephalopathy 15; DEE15 [-]	A developmental and epileptic encephalopathy that ..[+] A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34. [-]
developmental and epileptic encephalopathy 23	Epilepsy-cortical blindness-intellectual disabilit.. [+] Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; early infantile epileptic encephalopathy 23; DEE23 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. [-]
developmental and epileptic encephalopathy 32	early infantile epileptic encephalopathy 32; DEE32.. [+] early infantile epileptic encephalopathy 32; DEE32 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. [-]
developmental and epileptic encephalopathy 38	early infantile epileptic encephalopathy 38; DEE38.. [+] early infantile epileptic encephalopathy 38; DEE38 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. [-]
developmental and epileptic encephalopathy 54	early infantile epileptic encephalopathy 54; DEE54.. [+] early infantile epileptic encephalopathy 54; DEE54 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. [-]
developmental and epileptic encephalopathy 50	early infantile epileptic encephalopathy 50; Carbo.. [+] early infantile epileptic encephalopathy 50; Carbohydrate deficient glycoprotein syndrome type Iz; CDG-Iz; Congenital disorder of glycosylation type 1z; DEE50; CDG syndrome type Iz [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. [-]
developmental and epileptic encephalopathy 62	early infantile epileptic encephalopathy 62; DEE62.. [+] early infantile epileptic encephalopathy 62; DEE62 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. [-]
developmental and epileptic encephalopathy 11	early infantile epileptic encephalopathy 11; DEE11.. [+] early infantile epileptic encephalopathy 11; DEE11 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. [-]
Dravet syndrome	early infantile epileptic encephalopathy 6; DEE6; .. [+] early infantile epileptic encephalopathy 6; DEE6; developmental and epileptic encephalopathy 6; severe myoclonic epilepsy of infancy; DEE6A; developmental and epileptic encephalopathy 6A [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. [-]
developmental and epileptic encephalopathy 44	early infantile epileptic encephalopathy 44; DEE44.. [+] early infantile epileptic encephalopathy 44; DEE44 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. [-]
developmental and epileptic encephalopathy 47	early infantile epileptic encephalopathy 47; DEE47.. [+] early infantile epileptic encephalopathy 47; DEE47 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. [-]
developmental and epileptic encephalopathy 63	early infantile epileptic encephalopathy 63; DEE63.. [+] early infantile epileptic encephalopathy 63; DEE63 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. [-]
developmental and epileptic encephalopathy 40	early infantile epileptic encephalopathy 40; DEE40.. [+] early infantile epileptic encephalopathy 40; DEE40 [-]	A developmental and epileptic encephalopathy that ..[+] A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. [-]
developmental and epileptic encephalopathy 45	early infantile epileptic encephalopathy 45; DEE45.. [+] early infantile epileptic encephalopathy 45; DEE45 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. [-]
developmental and epileptic encephalopathy 24	early infantile epileptic encephalopathy 24; DEE24.. [+] early infantile epileptic encephalopathy 24; DEE24 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. [-]
developmental and epileptic encephalopathy 65	early infantile epileptic encephalopathy 65; DEE65.. [+] early infantile epileptic encephalopathy 65; DEE65 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. [-]
developmental and epileptic encephalopathy 19	early infantile epileptic encephalopathy 19; DEE19.. [+] early infantile epileptic encephalopathy 19; DEE19 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. [-]
developmental and epileptic encephalopathy 60	early infantile epileptic encephalopathy 60; DEE60.. [+] early infantile epileptic encephalopathy 60; DEE60 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. [-]
developmental and epileptic encephalopathy 51	early infantile epileptic encephalopathy 51; DEE51.. [+] early infantile epileptic encephalopathy 51; DEE51 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. [-]
developmental and epileptic encephalopathy 61	early infantile epileptic encephalopathy 61; DEE61.. [+] early infantile epileptic encephalopathy 61; DEE61 [-]	A developmental and epileptic encephalopathy that ..[+] A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21. [-]
developmental and epileptic encephalopathy 37	early infantile epileptic encephalopathy 37; DEE37.. [+] early infantile epileptic encephalopathy 37; DEE37 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. [-]
developmental and epileptic encephalopathy 4	early infantile epileptic encephalopathy 4; DEE4	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. [-]
developmental and epileptic encephalopathy 31A	early infantile epileptic encephalopathy 31; DEE31.. [+] early infantile epileptic encephalopathy 31; DEE31; DEE31A; developmental and epileptic encephalopathy 31 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. [-]
developmental and epileptic encephalopathy 5	early infantile epileptic encephalopathy 5; DEE5	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. [-]
developmental and epileptic encephalopathy 14	early infantile epileptic encephalopathy 14; DEE14.. [+] early infantile epileptic encephalopathy 14; DEE14 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. [-]
developmental and epileptic encephalopathy 3	early infantile epileptic encephalopathy 3	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. [-]
developmental and epileptic encephalopathy 49	early infantile epileptic encephalopathy 49; DEE49.. [+] early infantile epileptic encephalopathy 49; DEE49 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. [-]
developmental and epileptic encephalopathy 41	early infantile epileptic encephalopathy 41; DEE41.. [+] early infantile epileptic encephalopathy 41; DEE41 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. [-]
developmental and epileptic encephalopathy 21	early infantile epileptic encephalopathy 21; DEE21.. [+] early infantile epileptic encephalopathy 21; DEE21 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. [-]
developmental and epileptic encephalopathy 27	early infantile epileptic encephalopathy 27; DEE27.. [+] early infantile epileptic encephalopathy 27; DEE27 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. [-]
developmental and epileptic encephalopathy 13	early infantile epileptic encephalopathy 13; DEE13.. [+] early infantile epileptic encephalopathy 13; DEE13 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. [-]
developmental and epileptic encephalopathy 66	early infantile epileptic encephalopathy 66; DEE66.. [+] early infantile epileptic encephalopathy 66; DEE66 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. [-]
developmental and epileptic encephalopathy 43	early infantile epileptic encephalopathy 43; DEE43.. [+] early infantile epileptic encephalopathy 43; DEE43 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. [-]
developmental and epileptic encephalopathy 48	early infantile epileptic encephalopathy 48; DEE48.. [+] early infantile epileptic encephalopathy 48; DEE48 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. [-]
developmental and epileptic encephalopathy 16	early infantile epileptic encephalopathy 16; DEE16.. [+] early infantile epileptic encephalopathy 16; DEE16 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. [-]
developmental and epileptic encephalopathy 17	early infantile epileptic encephalopathy 17; DEE17.. [+] early infantile epileptic encephalopathy 17; DEE17 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. [-]
developmental and epileptic encephalopathy 29	early infantile epileptic encephalopathy 29; DEE29.. [+] early infantile epileptic encephalopathy 29; DEE29 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. [-]
developmental and epileptic encephalopathy 28	early infantile epileptic encephalopathy 28; DEE28.. [+] early infantile epileptic encephalopathy 28; DEE28 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. [-]
developmental and epileptic encephalopathy 25	early infantile epileptic encephalopathy 25; devel.. [+] early infantile epileptic encephalopathy 25; developmental and epileptic encephalopathy 25, with amelogenesis imperfecta; DEE25 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. [-]