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Neurofibromatosis type 2
NF2
Full NF2-related schwannomatosis
Centrum Medische Genetica - UZ Gent
Ellis-van Creveld syndrome (2 genes)
EVC
,
EVC2
Ellis-van Creveld (2 genes) - IPG
Ellis Van Creveld syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Oculopharyngeal Muscular Dystrophy - GCN repeats expansion
PABPN1
Oculopharyngeal muscular dystrophy
Centrum Menselijke Erfelijkheid - KUL
Oculopharyngeal muscular dystrophy - PABPN1 gene GCN trinucleotide repeats
PABPN1
Oculopharyngeal muscular dystrophy
Centrum Medische Genetica - UZ Brussel VUB
Immune deficiency, X-linked, with hyperIgM
CD40LG
X-linked hyper-IgM syndrome
Centrum Menselijke Erfelijkheid - KUL
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