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Myoadenylate deaminase deficiency (AMPD1 gene hot spot mutation - p.Gln12*)
AMPD1
Adenosine monophosphate deaminase deficiency
Centrum Medische Genetica - UZ Brussel VUB
Netherton syndrome (SPINK5 gene)
SPINK5
Netherton syndrome
Centrum Medische Genetica - UZ Brussel VUB
Septo-optic dysplasia
HESX1
Septo-optic dysplasia spectrum
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Immune deficiency with hyperIgM, type 3
CD40
Hyper-IgM syndrome type 3
Centrum Menselijke Erfelijkheid - KUL
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