Search
partial gonadal dysgenesis with minifascicular neuropathy 46,XY
Genetics:
- associated with defects in DHH (desert hedgehog protein)
Clinical manifestations:
- presence of a testis on one side & a streak or an absent gonad at the other, persistence of Muellerian duct structures, & a variable degree of genital ambiguity
General
gonadal dysgenesis
Database Correlations
OMIM 607080
References
OMIM :accession 607080