D052159Level 8
Frasier Syndrome
**Definition:** A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.
**Tree numbers:** - C12.050.351.875.253.096.624 - C12.050.351.968.419.780.750.500.500 - C12.200.706.316.096.624 - C12.200.777.419.780.750.500.500 - C12.800.316.096.624 - C12.950.419.780.750.500.500 - C16.131.939.316.096.624 - C16.320.306 - C19.391.119.096.624 - C23.550.291.500.906.500.500
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