Swyer's syndrome classification
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Classification
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| 46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED | 400044 | SRY | Yp11.3 |
| 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, DHH-RELATED | 233420 | DHH | 12q13.1 |
| 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT ADRENAL FAILURE | 612965 | NR5A1 | 9q33 |
| 46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED | 613080 | CBX2 | 17q25 |
| 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH 9p24.3 DELETION | 154230 | 9p24.3 |
References
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