Frasier Syndrome

Overview

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Is a:

Disease or Syndrome
Congenital Abnormality

Definition:

A syndrome characterized by chronic kidney failure and gonadal dysgenesis in phenotypic females with karyotype of 46,XY or 46,XX. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (genes, wilms tumor) on chromosome 11.

Synonyms:

Syndrome, Frasier

Broader Topics:

Urogenital Abnormalities

Narrower Topics:

None

Possibly Related Topics:

List of topics based on word similarity