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Occult macular dystrophy
RP1L1
Occult macular dystrophy
Centrum Medische Genetica - UZ Gent
Alagille syndrome (2 genes)
JAG1
,
NOTCH2
Alagille syndrome (2 genes) - UCL
Alagille syndrome due to a JAG1 point mutation
,
Alagille syndrome due to a NOTCH2 point mutation
,
Alagille syndrome due to 20p12 microdeletion
Centre de Génétique Médicale UCL
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
AIRE
Autoimmune polyendocrinopathy type 1
Centrum Menselijke Erfelijkheid - KUL
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome
FOXP3
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Centrum Menselijke Erfelijkheid - KUL
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