Definition of Frasier syndrome
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).
Last Editorial Review: 6/9/2016
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