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Items: 2

1.

Spermatogenic failure 47

Spermatogenic failure-47 (SPGF47) is characterized by male infertility due to asthenoteratospermia. Affected individuals have reduced sperm concentrations and spermatozoa are immotile, with short or absent flagella as well as centriolar abnormalities (Lv et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150. [from OMIM]

MedGen UID:
1721477
Concept ID:
C5436818
Disease or Syndrome
2.

Mitral valve prolapse, myxomatous 3

Patients with mitral valve prolapse-3 (MVP3) have nonsyndromic MVP of variable severity with an autosomal dominant pattern of inheritance. For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (157700). [from OMIM]

MedGen UID:
372132
Concept ID:
C1835814
Disease or Syndrome

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