Autosomal recessive nonsyndromic hearing loss 32- MedGen UID:
- 373370
- •Concept ID:
- C1837608
- •
- Disease or Syndrome
DFNB32 is characterized by prelingual progressive moderate to profound sensorineural deafness. Some affected men are infertile, and semen analysis has shown high percentages of immotile sperm with abnormal morphology (Imtiaz et al., 2018).
Spermatogenic failure 10- MedGen UID:
- 766707
- •Concept ID:
- C3553793
- •
- Disease or Syndrome
Spermatogenic failure-10 is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by Kuo et al., 2012).
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 11- MedGen UID:
- 767367
- •Concept ID:
- C3554453
- •
- Disease or Syndrome
Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.
Spermatogenic failure 36- MedGen UID:
- 1678385
- •Concept ID:
- C5193086
- •
- Disease or Syndrome
Spermatogenic failure-36 (SPGF36) is characterized by reduced fertility due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus (Guran et al., 2019).
For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).