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GENATLAS PHENOTYPE
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
    Mechanism(s)
    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