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Items: 2

1.

46,XY sex reversal 1

Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein. [from NCI]

MedGen UID:
412662
Concept ID:
C2748896
Disease or Syndrome
2.

Absence of secondary sex characteristics

No secondary sexual characteristics are present at puberty. [from HPO]

MedGen UID:
867193
Concept ID:
C4021551
Finding

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