ISCA-46302-Gain

Xp21.2 region (includes NR0B1) Gain
PanelMode of inheritanceDetails
2 panels
R-numbers: R146
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
gonadal dysgenesis
R-numbers: R21, R412
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
gonadal dysgenesis