Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 ???pagination.result.next???

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 ???pagination.result.next???

Disease	Synonyms	Description
developmental and epileptic encephalopathy 8	DEE8; early infantile epileptic encephalopathy 8; .. [+] DEE8; early infantile epileptic encephalopathy 8; EIEE8 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. [-]
duodenal atresia		An intestinal atresia that is characterized by con..[+] An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. [-]
dystransthyretinemic hyperthyroxinemia		A hyperthyroxinemia that is characterized by an in..[+] A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. [-]
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 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 57	DEE57; early infantile epileptic encephalopathy 57.. [+] DEE57; early infantile epileptic encephalopathy 57 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. [-]
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 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 18	DEE18; early infantile epileptic encephalopathy 18.. [+] DEE18; early infantile epileptic encephalopathy 18 [-]	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	DEE15; early infantile epileptic encephalopathy 15.. [+] DEE15; early infantile epileptic encephalopathy 15 [-]	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	DEE23; early infantile epileptic encephalopathy 23.. [+] DEE23; early infantile epileptic encephalopathy 23; Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome [-]	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	DEE32; early infantile epileptic encephalopathy 32.. [+] DEE32; early infantile epileptic encephalopathy 32 [-]	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	DEE38; early infantile epileptic encephalopathy 38.. [+] DEE38; early infantile epileptic encephalopathy 38 [-]	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	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 50	DEE50; Carbohydrate deficient glycoprotein syndrom.. [+] DEE50; Carbohydrate deficient glycoprotein syndrome type Iz; CDG-Iz; Congenital disorder of glycosylation type 1z; 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 62	DEE62; early infantile epileptic encephalopathy 62.. [+] DEE62; early infantile epileptic encephalopathy 62 [-]	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	DEE11; early infantile epileptic encephalopathy 11.. [+] DEE11; early infantile epileptic encephalopathy 11 [-]	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	developmental and epileptic encephalopathy 6A; DEE.. [+] developmental and epileptic encephalopathy 6A; DEE6A; developmental and epileptic encephalopathy 6; DEE6; early infantile epileptic encephalopathy 6; severe myoclonic epilepsy of infancy [-]	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	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 47	DEE47; early infantile epileptic encephalopathy 47.. [+] DEE47; early infantile epileptic encephalopathy 47 [-]	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	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 40	DEE40; early infantile epileptic encephalopathy 40.. [+] DEE40; early infantile epileptic encephalopathy 40 [-]	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	DEE45; early infantile epileptic encephalopathy 45.. [+] DEE45; early infantile epileptic encephalopathy 45 [-]	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	DEE24; early infantile epileptic encephalopathy 24.. [+] DEE24; early infantile epileptic encephalopathy 24 [-]	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	DEE65; early infantile epileptic encephalopathy 65.. [+] DEE65; early infantile epileptic encephalopathy 65 [-]	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	DEE19; early infantile epileptic encephalopathy 19.. [+] DEE19; early infantile epileptic encephalopathy 19 [-]	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	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 51	DEE51; early infantile epileptic encephalopathy 51.. [+] DEE51; early infantile epileptic encephalopathy 51 [-]	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	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 37	DEE37; early infantile epileptic encephalopathy 37.. [+] DEE37; early infantile epileptic encephalopathy 37 [-]	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	DEE4; early infantile epileptic encephalopathy 4	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	developmental and epileptic encephalopathy 31; DEE.. [+] developmental and epileptic encephalopathy 31; DEE31A; DEE31; early infantile 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	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 14	DEE14; early infantile epileptic encephalopathy 14.. [+] DEE14; early infantile epileptic encephalopathy 14 [-]	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	DEE49; early infantile epileptic encephalopathy 49.. [+] DEE49; early infantile epileptic encephalopathy 49 [-]	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	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 21	DEE21; early infantile epileptic encephalopathy 21.. [+] DEE21; early infantile epileptic encephalopathy 21 [-]	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	DEE27; early infantile epileptic encephalopathy 27.. [+] DEE27; early infantile epileptic encephalopathy 27 [-]	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. [-]