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Items: 5

1.

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015). [from OMIM]

MedGen UID:
899689
Concept ID:
C4225259
Disease or Syndrome
2.

Spermatogenic failure, X-linked, 2

Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene. [from MONDO]

MedGen UID:
374322
Concept ID:
C1839841
Disease or Syndrome
3.

Infertility disorder

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. [from NCI]

MedGen UID:
43876
Concept ID:
C0021359
Finding; Finding
4.

Male infertility

The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. [from MONDO]

MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
5.

Female infertility

Infertility in a woman. [from NCI]

MedGen UID:
5795
Concept ID:
C0021361
Pathologic Function
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