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Items: 2

1.

Syndactyly-telecanthus-anogenital and renal malformations syndrome

Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function. [from SNOMEDCT_US]

MedGen UID:
394424
Concept ID:
C2678045
Congenital Abnormality; Disease or Syndrome
2.

Testicular granulosa cell tumor

A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. [from NCI]

MedGen UID:
237001
Concept ID:
C1336709
Neoplastic Process

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