46,XY partial gonadal dysgenesis with minifascicular neuropathy

46,XY partial gonadal dysgenesis with minifascicular neuropathy may be caused by mutation in the desert hedgehog gene (DHH; MIM.605423).

Mutations in the DHH gene have also been found in patients with 46,XY complete gonadal dysgenesis who do not have minifascicular neuropathy (DHH-associated gonadal dysgenesis) (MIM.233420).

See also

 46,XY gonadal dysgenesis

• 46,XY partial gonadal dysgenesis
• 46,XY pure gonadal dysgenesis