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Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centre de Génétique Médicale UCL
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centrum Menselijke Erfelijkheid - KUL
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
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
HEXA
Tay-Sachs disease, B variant, adult form
,
Tay-Sachs disease, B variant, juvenile form
,
Tay-Sachs disease, B variant, infantile form
Centrum Medische Genetica - UZ Antwerpen
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
HEXA
Tay-Sachs disease, B variant, juvenile form
,
Tay-Sachs disease, B variant, infantile form
,
Tay-Sachs disease, B1 variant
,
Tay-Sachs disease, B variant, adult form
Centrum Medische Genetica - UZ Brussel VUB
Hereditary Spastic Paraplegia (94 genes)
Hereditary Spastic Paraplegia (94 genes) - KUL
Hereditary spastic paraplegia
Centrum Menselijke Erfelijkheid - KUL
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