Diseases of the genitourinary system
Diseases of male genital organs
Autosomal recessive
3p21.1
Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella. There is evidence that SPGF18 is caused by homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617576.1 | Saudi Arabia | Male | Non-obstructive azoospermia Non-obstructive azoospermia  | NM_015512.5:c.7387C>T | Homozygous | Autosomal, Recessive | Alhathal et al. 2020 | |||
| 617576.2 | Saudi Arabia | Male | Non-obstructive azoospermia Non-obstructive azoospermia | NM_015512.5:c.3460A>C, NM_015512.5:c.5375A>G | Compound heterozygous | Autosomal, Recessive | Alhathal et al. 2020 |