Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 04-10-2018
Symbol SRA2
Location 9p24.3
Name 46,XY gonadal dysgenesis, complete or partial , with 9p24 deletion
Other name(s)
  • sex reversal XY (male to female)
  • disorder of sex development, 46,XY
  • 46XY sex reversal 4
  • Corresponding gene TDFA , DMRT1 , DMRT2
    Other symbol(s) DEL9P24, XYDSD, SRXY4
    Main clinical features
  • characterized by normal female or ambiguous external genitalia and varying grades of mixed gonadal dysgenesis
  • may be observed independently of monosomy 9p syndrome
  • PMID: 22821627 for discussion of the critical regions for 9p-syndrome and DSD
  • Genetic determination chromosomal
    Related entries DEL9P
    Function/system disorder sex-genitalia
    Type malformation
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency SRO in the distal portion of 9p24.3, distal to D9S1779
    Remark(s) deletion of the DMRT genes alone is insufficient to cause sex-reversal