Conditions / Genetic

spermatogenic failure 51

info ยท Genetic

A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene o

A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33.

Signs and symptoms

  • Irregularly shaped sperm tail
  • Coiled sperm flagella
  • Microcephalic sperm head
  • Reduced sperm motility
  • Macrozoospermia
  • Absent sperm axoneme central pair complex
  • Absent sperm flagella
  • Short sperm flagella
  • Oligozoospermia

Also known as: SPGF51