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Rett syndrome / MECP2 Duplication Syndrome
MECP2
Rett syndrome
Centrum Menselijke Erfelijkheid - KUL
Rett syndrome
MECP2
Rett syndrome
,
Atypical Rett syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Autoimmune lymphoproliferative syndrome
FASLG
Autoimmune lymphoproliferative syndrome
Centrum Menselijke Erfelijkheid - KUL
Autoimmune lymphoproliferative syndrome type 1A
FAS
Autoimmune lymphoproliferative syndrome
Centrum Menselijke Erfelijkheid - KUL
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
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Autosomal recessive polycystic kidney disease
,
Autosomal dominant polycystic kidney disease
,
Isolated polycystic liver disease
,
Infantile nephronophthisis
,
Juvenile nephronophthisis
,
Late-onset nephronophthisis
,
Bardet-Biedl syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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