Genomics England
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Genes and Entities
EPHX1
epoxide hydrolase 1
OMIM:
132810
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Panel
Mode of inheritance
Details
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Severe insulin resistance and lipodystrophy syndromes
R-numbers:
R158
Signed-off version 4.56
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
lipodystrophy, MONDO:0006573, Insulin resistance, HP:0000855