- Early-onset multiple carboxylase deficiency - See Holocarboxylase synthetase deficiency
- Ehlers-Danlos syndrome, Classic type (type I)
- Ehlers-Danlos syndrome, Kyphoscoliotic type (type VI)
- Ehlers-Danlos syndrome, Vascular type (type IV)
- Epidermolysis bullosa
- Epileptic encephalopathy, early infantile 2 - See CDKL5 deficiency disorder
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