Frasier syndrome

MONDO:0007635

Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.

Also known as: Frasier syndrome, Frasier syndrome, autosomal dominant, somatic mutation

5 clinical trials for this condition and its sub-types, 0 tagged with Frasier syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Syndromic disease (7158) ↑ Autosomal dominant disease (699) ↑ 46,XY disorder of sex development (10)

Including sub-types (5) Tagged with Frasier syndrome (0)

Trials to join now! 4 Not yet finished but already full! 1

Reading the genetic code to understand differences in sex development

Knowledge-focused By invitation only

This study aims to find genetic causes of conditions that affect the development of the gonads and genitals, such as hypospadias and ambiguous genitalia. Researchers will use whole exome sequencing to analyze DNA from 300 children and their families. The study also measures how r…

Sponsor: Boston Children's Hospital • Aim: Knowledge-focused

Last updated Jul 24, 2026 00:00 UTC

Frasier syndrome

Where it sits in the disease tree

Reading the genetic code to understand differences in sex development