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Autoimmune lymphoproliferative syndrome, type V
CTLA4
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Centrum Menselijke Erfelijkheid - KUL
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)
CACNA1S
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Malignant hypertermia
RYR1
,
CACNA1S
Malignant hyperthermia of anesthesia
Centrum Medische Genetica - UZ Gent
Adams-Oliver syndrome (gene panel)
ARHGAP31
,
DOCK6
,
RBPJ
,
NOTCH1
,
DLL4
,
EOGT
Adams-Oliver (6 genes) - UZA
Adams-Oliver syndrome
Centrum Medische Genetica - UZ Antwerpen
Kallmann syndrome (ANOS1 gene)
ANOS1
Kallmann syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
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