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Items: 6

1.

Chromosome 11;14 translocation

MedGen UID:
441047
Concept ID:
CN072184
Disease or Syndrome
2.

Abnormal sperm morphology

A structural anomaly of sperm. [from HPO]

MedGen UID:
588677
Concept ID:
C0403824
Disease or Syndrome; Finding
3.

Globozoospermia

Spermatogenic failure-6 (SPGF6) is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

MedGen UID:
96048
Concept ID:
C0403825
Finding
4.

Male infertility due to globozoospermia

Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent. [from ORDO]

MedGen UID:
1826006
Concept ID:
C5679591
Disease or Syndrome
5.

Abnormality of the testis size

An anomaly of the size of the testicle (the male gonad). [from HPO]

MedGen UID:
892750
Concept ID:
C4073180
Anatomical Abnormality
6.

Abnormality of canine

An abnormality of canine tooth. [from HPO]

MedGen UID:
869127
Concept ID:
C4023546
Anatomical Abnormality
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