Genomics England
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Genes and Entities
MAGED2
MAGE family member D2
OMIM:
300470
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Panel
Mode of inheritance
Details
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in
Renal tubulopathies
R-numbers:
R198
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Bartter syndrome, type 5, antenatal, transient, 300971