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Items: 5

1.

Autosomal recessive nonsyndromic hearing loss 32

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). [from OMIM]

MedGen UID:
373370
Concept ID:
C1837608
Disease or Syndrome
2.

Spermatogenic failure 11

Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene. [from MONDO]

MedGen UID:
767367
Concept ID:
C3554453
Disease or Syndrome
3.

Spermatogenic failure 10

Spermatogenic failure-10 (SPGF10) 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). [from OMIM]

MedGen UID:
766707
Concept ID:
C3553793
Disease or Syndrome
4.

Spermatogenic failure 36

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). [from OMIM]

MedGen UID:
1678385
Concept ID:
C5193086
Disease or Syndrome
5.

Abnormal sperm morphology

A structural anomaly of sperm. [from HPO]

MedGen UID:
588677
Concept ID:
C0403824
Disease or Syndrome; Finding
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