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Disease	Synonyms	Description
distal myopathy 1	Distal myopathy type 1; Gowers disease; Laing dist.. [+] Distal myopathy type 1; Gowers disease; Laing distal myopathy; Laing early-onset distal myopathy; MPD1 [-]	A distal myopathy that is characterized by autosom..[+] A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. [-]
dry beriberi		A beriberi that is located_in the nervous system a..[+] A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting. [-]
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 31B	DEE31B	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. [-]
developmental and epileptic encephalopathy 96	DEE96	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. [-]
developmental and epileptic encephalopathy 109	DEE109	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13. [-]
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 85	DEE85; early infantile epileptic encephalopathy 85.. [+] DEE85; early infantile epileptic encephalopathy 85 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. [-]
developmental and epileptic encephalopathy 90	DEE90	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26. [-]
developmental and epileptic encephalopathy 95	DEE95; early infantile epileptic encephalopathy 95.. [+] DEE95; early infantile epileptic encephalopathy 95 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. [-]
developmental and epileptic encephalopathy 97	DEE97; early infantile epileptic encephalopathy 97.. [+] DEE97; early infantile epileptic encephalopathy 97 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. [-]
developmental and epileptic encephalopathy 98	DEE98; early infantile epileptic encephalopathy 98.. [+] DEE98; early infantile epileptic encephalopathy 98 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. [-]
developmental and epileptic encephalopathy 99	DEE99; early infantile epileptic encephalopathy 99.. [+] DEE99; early infantile epileptic encephalopathy 99 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. [-]
developmental and epileptic encephalopathy 100	DEE100; early infantile epileptic encephalopathy 1.. [+] DEE100; early infantile epileptic encephalopathy 100 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. [-]
developmental and epileptic encephalopathy 101	DEE101; early infantile epileptic encephalopathy 1.. [+] DEE101; early infantile epileptic encephalopathy 101 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. [-]
developmental and epileptic encephalopathy 102	DEE102; early infantile epileptic encephalopathy 1.. [+] DEE102; early infantile epileptic encephalopathy 102 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. [-]
developmental and epileptic encephalopathy 103	DEE103; early infantile epileptic encephalopathy 1.. [+] DEE103; early infantile epileptic encephalopathy 103 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. [-]
developmental and epileptic encephalopathy 104	DEE104; early infantile epileptic encephalopathy 1.. [+] DEE104; early infantile epileptic encephalopathy 104 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. [-]
developmental and epileptic encephalopathy 105	DEE105; early infantile epileptic encephalopathy 1.. [+] DEE105; early infantile epileptic encephalopathy 105 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. [-]
developmental and epileptic encephalopathy 106	DEE106; early infantile epileptic encephalopathy 1.. [+] DEE106; early infantile epileptic encephalopathy 106 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. [-]