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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
Beta-globin hemoglobinopathies, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L)
BCL11A
,
HBG2
,
HBS1L
Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Hemoglobinopathy Toms River
Centre de Génétique Humaine - Erasme ULB
Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR)
STAT1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
,
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
,
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Centrum Menselijke Erfelijkheid - KUL
Central Precocious Puberty (5 genes)
MKRN3
,
KISS1
,
KISS1R
,
PROKR2
,
DLK1
Central Precocious Puberty (5 genes) - ULG
Idiopathic central precocious puberty
Centre de Génétique Humaine - CHU Sart-Tilman
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