Table 1. Summary of MRKHS patients.

Patient	Phenotype	Analysis	Genital system	Renal system	Skeleton	Heart	Hearing	Other
1	Type I	Array	Vaginal agenesis, uterushypoplasia	Normal	Normal	DiastolicDysfunctiongrade I	Normal	None
2	Type I	Array	Vaginal agenesis, uterusaplasia	Normal	Normal	Normal	Normal	Inguinal and umbilical hernia
3	Type II	Array	Vaginal agenesis, uterusaplasia	Unilateral kidney agenesis,renal ectopia	Occipital meningocele, Spina Bifida, Arnold-Chiaritype I, cifoscoliosis, C2–C3 fusion	Normal	Normal	Inguinal hernia
4	Type II	Array	Rudimentary uterus,vaginal agenesis	Unilateral kidneyagenesis	Normal	Normal	Normal	None
5	Type I	Array	Vaginal agenesis,rudimentary uterus	Normal	Normal	Normal	Normal	None
6	Type I	Array	Unilateralsalpingectomy	Normal	Normal	Normal	Not determined	None
7	Type I	Array	Vaginal agenesis,uterus aplasia	Normal	Normal	Normal	Normal	None
8	Type II	Array	Vaginal agenesis	Normal	Normal	Normal	Normal	None
9	Type I	qRT-PCR	Vaginal agenesis	Normal	Normal	Normal	Normal	None
10	Type I	qRT-PCR	Vaginal atresia,uterus aplasia	Normal	Normal	Normal	Normal	Inguinal hernia
11	Type I	qRT-PCR	Rudimentary uterus,vaginal agenesis	Normal	Normal	Normal	Normal	Notta’s syndrome
12	Type I	qRT-PCR	Vaginal agenesis	Normal	Normal	Normal	Normal	None
13	Type I	qRT-PCR	Vaginal agenesis	Normal	Normal	Normal	Normal	None
14	Type II	qRT-PCR	Vaginal agenesis,uterus aplasia	Ectopic kidney	Normal	Dextrocardia	Normal	Unilateral lung agenesis, cleft lip and palate
15	Type I	qRT-PCR	Vaginal agenesis	Normal	Normal	Normal	Notdetermined	None
16	Type II	qRT-PCR	Half-uterus, unilateralhematosalpinx	Unilateral kidneyagenesis	Normal	Interventricularseptal defect	Notdetermined	Oesophageal atresia