MedGen

Spermatogenic failure-83 (SPGF83) is characterized by male infertility due to asthenozoospermia. Patient sperm are immotile, and exhibit an asymmetric fibrous sheath of the flagella (Wu et al., 2023). Patients with reduced sperm motility due to morphologic abnormalities of the flagella (asthenoteratozoospermia) and patients with reduced sperm counts as well as flagellar defects and reduced or absent motility (oligoasthenoteratozoospermia) have been observed (Sha et al., 2022; Zhang et al., 2024). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Primary ciliary dyskinesia-49 (CILD49) without situs inversus is an autosomal recessive disorder characterized by the onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance. Affected males also show infertility due to defective flagellar morphology and function. Nasal nitric oxide (NO) levels are normal and situs abnormalities are not observed (Sha et al., 2020; Biebach et al., 2022). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). [from OMIM]