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

Overview