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Fukuyama congenital muscular dystrophy
FKTN
Congenital muscular dystrophy, Fukuyama type
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)
FANCC
Fanconi anemia
Centrum Medische Genetica - UZ Antwerpen
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)
ASPA
,
ELP1
,
HEXA
,
FANCC
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Centrum Medische Genetica - UZ Antwerpen
Hyperekplexia (3 genes)
SLC6A5
,
GLRA1
,
GLRB
Hyperekplexia (3 genes) - ULG
Hereditary hyperekplexia
Centre de Génétique Humaine - CHU Sart-Tilman
Cylindromatosis
CYLD
Familial cylindromatosis
Centre de Génétique Médicale UCL
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