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GTR Home > Conditions/Phenotypes > Ovarian dysgenesis 9

Ovarian dysgenesis 9

Summary

Ovarian dysgenesis-9 (ODG9) is characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Patient cells show evidence of chromosomal instability (Smirin-Yosef et al., 2017; Heddar et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: KIAA0146, ODG9, SPIDR
    Summary: scaffold protein involved in DNA repair

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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