46,xx Sex Reversal 2; Srxx2

Clinical Features

Top most frequent phenotypes and symptoms related to 46,xx Sex Reversal 2; Srxx2

  • Pain
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Hypospadias
  • Micropenis
  • Infertility
  • Hypoplasia of penis
  • Gynecomastia
  • Azoospermia
  • Scrotal hypoplasia

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

46,xx Sex Reversal 2; Srxx2 Is also known as chromosome 17q24 duplication syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

46,xx Sex Reversal 2; Srxx2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Skeletal Dysplasia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
Specificity
13 %
Genes
34 %
Campomelic Dysplasia with Autosomal Sex Reversal - SOX9 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SOX9
Specificity
100 %
Genes
34 %
Campomelic Dysplasia.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SOX9
Specificity
100 %
Genes
34 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
5 %
Genes
100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
100 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...)

View the complete list with 6 more genes
Specificity
12 %
Genes
100 %
SOX9.

By Institute for Human Genetics University Clinic Freiburg (Germany).

SOX9
Specificity
100 %
Genes
34 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
34 %

You can get up to 142 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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