Ovarian dysgenesis-10 (ODG10) is characterized by primary amenorrhea and absent puberty. The uterus is small and prepubertal, and ovaries are streak or not visualized on ultrasound (McGlacken-Byrne et al., 2022).
Mutation in the ZSWIM7 gene also causes male infertility due to spermatogenic failure (SPGF71; 619831).
For a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). [from
OMIM]