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Disease	Synonyms	Description
developmental and epileptic encephalopathy 34	DEE34; early infantile epileptic encephalopathy 34.. [+] DEE34; early infantile epileptic encephalopathy 34; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. [-]
developmental and epileptic encephalopathy 35	DEE35; early infantile epileptic encephalopathy 35.. [+] DEE35; early infantile epileptic encephalopathy 35; ITPA-related encephalopathy; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. [-]
developmental and epileptic encephalopathy 36	congenital disorder of glycosylation, type Is; ear.. [+] congenital disorder of glycosylation, type Is; early infantile epileptic encephalopathy 36; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. [-]
developmental and epileptic encephalopathy 39	AGC1 deficiency; early infantile epileptic encepha.. [+] AGC1 deficiency; early infantile epileptic encephalopathy 39; epileptic encephalopathy with global cerebral demyelination; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. [-]
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 41	DEE41; early infantile epileptic encephalopathy 41.. [+] DEE41; early infantile epileptic encephalopathy 41; [-]	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 44	DEE44; early infantile epileptic encephalopathy 44.. [+] DEE44; early infantile epileptic encephalopathy 44; [-]	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 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 48	DEE48; early infantile epileptic encephalopathy 48.. [+] DEE48; early infantile epileptic encephalopathy 48; [-]	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 5	DEE5; early infantile epileptic encephalopathy 5;	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 50	Carbohydrate deficient glycoprotein syndrome type .. [+] Carbohydrate deficient glycoprotein syndrome type Iz; CDG-Iz; Congenital disorder of glycosylation type 1z; DEE50; early infantile epileptic encephalopathy 50; 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 52	DEE52; early infantile epileptic encephalopathy 52.. [+] DEE52; early infantile epileptic encephalopathy 52; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. [-]
developmental and epileptic encephalopathy 53	DEE53; early infantile epileptic encephalopathy 53.. [+] DEE53; early infantile epileptic encephalopathy 53; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. [-]
developmental and epileptic encephalopathy 54	DEE54; early infantile epileptic encephalopathy 54.. [+] DEE54; early infantile epileptic encephalopathy 54; [-]	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 55	DEE55; early infantile epileptic encephalopathy 55.. [+] DEE55; early infantile epileptic encephalopathy 55; glycosylphosphatidylinositol biosynthesis defect 14; GPIBD14; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. [-]
developmental and epileptic encephalopathy 56	DEE56; early infantile epileptic encephalopathy 56.. [+] DEE56; early infantile epileptic encephalopathy 56; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. [-]
developmental and epileptic encephalopathy 58	DEE58; early infantile epileptic encephalopathy 58.. [+] DEE58; early infantile epileptic encephalopathy 58; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. [-]
developmental and epileptic encephalopathy 59	DEE59; early infantile epileptic encephalopathy 59.. [+] DEE59; early infantile epileptic encephalopathy 59; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. [-]
developmental and epileptic encephalopathy 60	DEE60; early infantile epileptic encephalopathy 60.. [+] DEE60; early infantile epileptic encephalopathy 60; [-]	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 61	DEE61; early infantile epileptic encephalopathy 61.. [+] DEE61; early infantile epileptic encephalopathy 61; [-]	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 63	DEE63; early infantile epileptic encephalopathy 63.. [+] DEE63; early infantile epileptic encephalopathy 63; [-]	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 64	DEE64; early infantile epileptic encephalopathy 64.. [+] DEE64; early infantile epileptic encephalopathy 64; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. [-]
developmental and epileptic encephalopathy 66	DEE66; early infantile epileptic encephalopathy 66.. [+] DEE66; early infantile epileptic encephalopathy 66; [-]	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 67	DEE67; early infantile epileptic encephalopathy 67.. [+] DEE67; early infantile epileptic encephalopathy 67; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. [-]
developmental and epileptic encephalopathy 68	DEE68; early infantile epileptic encephalopathy 68.. [+] DEE68; early infantile epileptic encephalopathy 68; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. [-]
developmental and epileptic encephalopathy 69	DEE69; early infantile epileptic encephalopathy 69.. [+] DEE69; early infantile epileptic encephalopathy 69; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. [-]
developmental and epileptic encephalopathy 6B	DEE6B;	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe. [-]
developmental and epileptic encephalopathy 7	early infantile epileptic encephalopathy 7; KCNQ2-.. [+] early infantile epileptic encephalopathy 7; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. [-]
developmental and epileptic encephalopathy 70	DEE70; early infantile epileptic encephalopathy 70.. [+] DEE70; early infantile epileptic encephalopathy 70; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. [-]
developmental and epileptic encephalopathy 71	DEE71; early infantile epileptic encephalopathy 71.. [+] DEE71; early infantile epileptic encephalopathy 71; glutaminase deficiency with neonatal epileptic encephalopathy; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. [-]
developmental and epileptic encephalopathy 72	DEE72; early infantile epileptic encephalopathy 72.. [+] DEE72; early infantile epileptic encephalopathy 72; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. [-]
developmental and epileptic encephalopathy 73	DEE73; early infantile epileptic encephalopathy 73.. [+] DEE73; early infantile epileptic encephalopathy 73; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. [-]
developmental and epileptic encephalopathy 74	DEE74; early infantile epileptic encephalopathy 74.. [+] DEE74; early infantile epileptic encephalopathy 74; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. [-]
developmental and epileptic encephalopathy 75	DEE75; early infantile epileptic encephalopathy 75.. [+] DEE75; early infantile epileptic encephalopathy 75; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. [-]
developmental and epileptic encephalopathy 76	DEE76; developmental delay, epileptic endephalopat.. [+] DEE76; developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination; early infantile epileptic encephalopathy 76; DECAM; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. [-]
developmental and epileptic encephalopathy 78	DEE78; early infantile epileptic encephalopathy 78.. [+] DEE78; early infantile epileptic encephalopathy 78; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. [-]
developmental and epileptic encephalopathy 79	DEE79; early infantile epileptic encephalopathy 79.. [+] DEE79; early infantile epileptic encephalopathy 79; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. [-]
developmental and epileptic encephalopathy 80	DEE80; early infantile epileptic encephalopathy 80.. [+] DEE80; early infantile epileptic encephalopathy 80; glycosylphosphatidylinositol biosynthesis defect 20; GPIBD20; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. [-]
developmental and epileptic encephalopathy 81	DEE81; early infantile epileptic encephalopathy 81.. [+] DEE81; early infantile epileptic encephalopathy 81; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. [-]
developmental and epileptic encephalopathy 82	DEE82; early infantile epileptic encephalopathy 82.. [+] DEE82; early infantile epileptic encephalopathy 82; [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. [-]