Features include very common findings: Absent testis, Abnormal morphology of female internal genitalia, Abnormal male internal genitalia morphology, and Male pseudohermaphroditism and others; and common findings: Gonadal dysgenesis with female appearance, male. 22 total HPO annotations.

DHX37 encodes DEAH-box helicase 37 (1,157 aa). ATP-binding RNA helicase that plays a role in maturation of the small ribosomal subunit in ribosome biogenesis. Required for the release of the U3 snoRNP from pre-ribosomal particles. Highest expression in Cells EBV-transformed lymphocytes (34.9 TPM) and Cells Cultured fibroblasts (19.3 TPM).

46,XY sex reversal 11 is associated with mutations in the DHX37 gene on chromosome 12.

DHX37 is classified as a druggable target with score 0.0.

Genetic testing for DHX37 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for 46,XY sex reversal 11 has been reported in the published literature.

Phenotype severity distribution: 10 very common features, 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for 46,XY sex reversal 11.

17 publications have been identified in PubMed for 46,XY sex reversal 11. Research spans Case Report / Case Series (53%), Epidemiology / Natural History (18%), and Review / Meta-Analysis (12%).