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Items: 3

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.

Spermatogenic failure, X-linked, 6

X-linked spermatogenic failure-6 (SPGFX6) is characterized by male infertility due to asthenoteratozoospermia. Patient spermatozoa show reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, primarily short and coiled flagella. Pregnancy can be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
1840198
Concept ID:
C5829562
Disease or Syndrome
3.

Abnormal male external genitalia morphology

Any structural abnormality of male external genitalia. [from HPO]

MedGen UID:
871399
Concept ID:
C4025897
Anatomical Abnormality
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