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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
Schinzel-Giedion midface retraction syndrome
SETBP1
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
,
Schinzel-Giedion syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Immunodeficiency 30 / Susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Centrum Menselijke Erfelijkheid - KUL
Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
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