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GENATLAS PHENOTYPE
last update : 06-09-2018
Symbol SPGF28
Location 14q21.2
Name spermatogenic failure 28
Corresponding gene FANCM
Main clinical features
  • nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue
  • reduced total testicular volume, with elevated serum follicle-stimulating hormone (FSH)
  • testicular histology revealed Sertoli cell-only syndrome, with complete lack of sperm and extensive sclerosis and tubular atrophy
  • Genetic determination autosomal recessive
    Function/system disorder sex-genitalia
    Type disease
    Remark(s)