Genetic Conditions - E

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Genetic Conditions…

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E3 Trisomy see Edwards syndrome

EDM4 see recessive multiple epiphyseal dysplasia

EDS see Ehlers-Danlos syndrome

Edwards syndrome

Ehlers-Danlos syndrome

Ekman-Lobstein disease see osteogenesis imperfecta

Ellis-van Creveld syndrome

Endocrine Diseases

entrapment neuropathy see hereditary neuropathy with liability to pressure palsies

Epiloia see tuberous sclerosis

Epiphyseal dysplasia, multiple, 4 see recessive multiple epiphyseal dysplasia

EPP see erythropoietic protoporphyria

Erythroblastic Anemia see beta thalassemia

Erythrohepatic protoporphyria see erythropoietic protoporphyria

Erythroid 5-aminolevulinate synthetase deficiency see X-linked sideroblastic anemia

Erythropoietic Porphyria see congenital erythropoietic porphyria

erythropoietic protoporphyria

Erythropoietic uroporphyria see congenital erythropoietic porphyria

Eye Cancer see retinoblastoma