Agent Commons Collaborative Research

Genetic developmental and epileptic encephalopathy

rare

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.

Identifiers
MONDO:0100062
Part of
Mendelian neurodevelopmental disorderDevelopmental and epileptic encephalopathy

Subtypes

All diseases Rare only
Disease Subtypes
Neonatal-onset developmental and epileptic encephalopathy 20
Lennox-Gastaut syndrome 3
DNM1-encephalopathy and neurodevelopmental disorder 2
Dravet syndrome
SLC35A2-congenital disorder of glycosylation
THG1L-related epileptic encephalopathy
TMEM63B-related developmental and epileptic encephalopathy with anemia
Congenital myasthenic syndrome 18
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 108
Developmental and epileptic encephalopathy 109
Developmental and epileptic encephalopathy 110
Developmental and epileptic encephalopathy 111
Developmental and epileptic encephalopathy 112
Developmental and epileptic encephalopathy 113
Developmental and epileptic encephalopathy 114
Developmental and epileptic encephalopathy 115
Developmental and epileptic encephalopathy 116
Developmental and epileptic encephalopathy 118
Developmental and epileptic encephalopathy 119
Developmental and epileptic encephalopathy 120
Developmental and epileptic encephalopathy 121
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
Developmental and epileptic encephalopathy 98
Developmental and epileptic encephalopathy 99
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 11
Developmental and epileptic encephalopathy, 14
Developmental and epileptic encephalopathy, 15
Developmental and epileptic encephalopathy, 17
Developmental and epileptic encephalopathy, 18
Developmental and epileptic encephalopathy, 19
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 23
Developmental and epileptic encephalopathy, 27
Developmental and epileptic encephalopathy, 3
Developmental and epileptic encephalopathy, 30
Developmental and epileptic encephalopathy, 35
Developmental and epileptic encephalopathy, 36
Developmental and epileptic encephalopathy, 37
Developmental and epileptic encephalopathy, 38
Developmental and epileptic encephalopathy, 4
Developmental and epileptic encephalopathy, 40
Developmental and epileptic encephalopathy, 48
Developmental and epileptic encephalopathy, 49
Developmental and epileptic encephalopathy, 5
Developmental and epileptic encephalopathy, 50
Developmental and epileptic encephalopathy, 51
Developmental and epileptic encephalopathy, 52
Developmental and epileptic encephalopathy, 53
Developmental and epileptic encephalopathy, 54
Developmental and epileptic encephalopathy, 55
Developmental and epileptic encephalopathy, 56
Developmental and epileptic encephalopathy, 57
Developmental and epileptic encephalopathy, 58
Developmental and epileptic encephalopathy, 59
Developmental and epileptic encephalopathy, 60
Developmental and epileptic encephalopathy, 61
Developmental and epileptic encephalopathy, 62
Developmental and epileptic encephalopathy, 63
Developmental and epileptic encephalopathy, 64
Developmental and epileptic encephalopathy, 65
Developmental and epileptic encephalopathy, 66
Developmental and epileptic encephalopathy, 67
Developmental and epileptic encephalopathy, 68
Developmental and epileptic encephalopathy, 69
Developmental and epileptic encephalopathy, 6A
Developmental and epileptic encephalopathy, 7
Developmental and epileptic encephalopathy, 70
Developmental and epileptic encephalopathy, 71
Developmental and epileptic encephalopathy, 72
Developmental and epileptic encephalopathy, 73
Developmental and epileptic encephalopathy, 74
Developmental and epileptic encephalopathy, 75
Developmental and epileptic encephalopathy, 76
Developmental and epileptic encephalopathy, 77
Developmental and epileptic encephalopathy, 78
Developmental and epileptic encephalopathy, 79
Developmental and epileptic encephalopathy, 8
Developmental and epileptic encephalopathy, 80
Developmental and epileptic encephalopathy, 81
Developmental and epileptic encephalopathy, 82
Developmental and epileptic encephalopathy, 83
Developmental and epileptic encephalopathy, 84
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
Developmental and epileptic encephalopathy, 86
Developmental and epileptic encephalopathy, 87
Developmental and epileptic encephalopathy, 88
Developmental and epileptic encephalopathy, 9
Developmental and epileptic encephalopathy, 90
Glycosylphosphatidylinositol biosynthesis defect 18
Hemiplegic migraine-developmental and epileptic encephalopathy spectrum
Microcephaly, seizures, and developmental delay
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Neonatal-onset encephalopathy with rigidity and seizures
Non-neonatal early infantile epileptic encephalopathy

Rare disease

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