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GENATLAS PHENOTYPE
last update : 04-07-2017
Symbol MIMAF2
Location 10q25.1
Name Male Infertility with multiple Morphological Abnormalities of the sperm Flagella 2
Other name(s) Spermatogenic failure 19
Corresponding gene CFAP43
Other symbol(s) SPGF19
Main clinical features
  • men with multiple morphological abnormalities of the flagella (MMAF) have abnormal spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility
  • Genetic determination autosomal recessive
    Prevalence . identified in 4 of 12 (33p100) genetically unexplained MIMAF-affected individuals (PMID: 28552195)
    Function/system disorder sex-genitalia
    Type disease
    Remark(s)