SPERMATOGENIC FAILURE, X-LINKED, 2

General Information (adopted from Orphanet):

Synonyms, Signs: MALE INFERTILITY FROM DEFECT IN MEIOSIS
SPGFX2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 309120
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000027) Azoospermia 28 / 7739
2
(HPO:0003251) Male infertility 14 / 7739
3
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
(OMIM) Desynapsis, lack of chiasmata and degeneration of spermatocytes in meiosis I 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 3 males in 2 generations and 3 sibships, related through females, Chaganti and German (1979) observed infertility. Testicular tissue from the propositus showed desynapsis, lack of chiasmata and degeneration of spermatocytes during the first meiotic division. X-linked ...