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Achromatopsia
CNGB3
,
CNGA3
Achromatopsia (2 genes) - UGent
Achromatopsia
Centrum Medische Genetica - UZ Gent
Familial Exudative Vitreoretinopathy, autosomal dominant
FZD4
,
TSPAN12
,
LRP5
,
NDP
Exudative Vitreoretinopathy - UGent
Familial exudative vitreoretinopathy
Centrum Medische Genetica - UZ Gent
Norrie disease (NDP gene)
NDP
Norrie disease
Centrum Medische Genetica - UZ Brussel VUB
Kabuki syndrome (gene panel)
KMT2D
,
KDM6A
,
KMT2A
,
HNRNPK
,
RAP1A
,
RAP1B
,
PACS1
Kabuki (7 genes) - IPG
Kabuki syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR)
STAT1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
,
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
,
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Centrum Menselijke Erfelijkheid - KUL
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