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Sex determining region Y
SRY
45,X/46,XY mixed gonadal dysgenesis
,
46,XX ovotesticular difference of sex development
,
46,XX testicular difference of sex development
,
46,XY complete gonadal dysgenesis
,
46,XY partial gonadal dysgenesis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y
SRY
45,X/46,XY mixed gonadal dysgenesis
,
46,XY complete gonadal dysgenesis
,
46,XX ovotesticular difference of sex development
,
46,XY partial gonadal dysgenesis
,
46,XX testicular difference of sex development
Centre de Génétique Humaine - CHU Sart-Tilman
Polyarteritis nodosa, childhood-onset / Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
ADA2
Vasculitis due to ADA2 deficiency
,
Diamond-Blackfan anemia
,
Sneddon syndrome
Centrum Menselijke Erfelijkheid - KUL
Hemochromatosis hereditary type 2 to type 5 (5 genes)
HAMP
,
FTH1
,
SLC40A1
,
TFR2
,
HJV
Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL
HJV or HAMP-related hemochromatosis
,
TFR2-related hemochromatosis
,
Hemochromatosis type 4
,
Hemochromatosis type 5
Centre de Génétique Médicale UCL
Androgen insensitivity (AR gene)
AR
Partial androgen insensitivity syndrome
,
Complete androgen insensitivity syndrome
Centrum Medische Genetica - UZ Brussel VUB
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