Definition of Frasier syndrome

Reviewed on 6/3/2021

Frasier syndrome: A condition characterized by the presence of an XY sex chromosome constitution and undermasculinized external genitalia that may range from ambiguous in appearance to normal-looking female genitalia. There is also kidney disease (glomerulosclerosis) and gonadal tumors (gonadoblastoma). Frasier syndrome is caused by point mutations in the WT1 gene (in the intron 9 donor splice site).

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