Disease Associations |
Spermatogenic failure 6 (SPGF6) [MIM:102530]: An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon. {ECO:0000269PubMed:17847006}. Note=The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive variation of SPATA16 has been shown to be responsible for the disease in a consanguineous family with members homozygous for the variation.
|