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FRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(q22.1)(FRA16B)

MedGen UID:
855519
Concept ID:
C3890175
Finding
Synonyms: FRA16B; FRAGILE SITE 16q22
 
OMIM®: 136580

Clinical features

From HPO
Infertility disorder
MedGen UID:
43876
Concept ID:
C0021359
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
Abnormal lymph node morphology
MedGen UID:
852420
Concept ID:
C0149727
Finding
A structural lymph node abnormality.
Abnormality of chromosome segregation
MedGen UID:
871193
Concept ID:
C4025670
Finding
An abnormality of chromosome segregation.

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