Disease ID | Source | Name | Description |
617592 | OMIM | Spermatogenic failure 19 (SPGF19) | An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF19 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility. The disease is caused by variants affecting the gene represented in this entry. |
236690 | OMIM | Hydrocephalus, normal pressure, 1 (HYDNP1) | An autosomal dominant neurologic disorder characterized by a slowly progressive gait disorder, urinary incontinence, progressive intellectual decline, and ventricular enlargement on brain imaging. Cerebrospinal fluid pressure tends to be in the high normal range. The disease may be caused by variants affecting the gene represented in this entry. |