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GENATLAS PHENOTYPE
last update : 06-09-2018
Symbol ACSPS
Location 16q22.2
Name Acephalic Spermatozoa Syndrome
Other name(s) Spermatogenic failure 31
Corresponding gene PMFBP1
Other symbol(s) SPGF31
Main clinical features
  • PMFBP1-null spermatozoa had no sperm head and contained a residual droplet of cytoplasm at the top of the flagellum with misarranged mitochondria inside
  • male infertility
  • Genetic determination autosomal recessive
    Function/system disorder sex-genitalia
    Type disease
    Remark(s)
  • ICSI may be an effective therapeutic strategy to overcome infertility in acephalic spermatozoa syndrome (PMID: 30032984))