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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
Leydig cell hypoplasia or Precocious puberty, male-limited
LHCGR
Familial peripheral male-limited precocious puberty
,
Leydig cell hypoplasia due to partial LH resistance
,
Leydig cell hypoplasia due to complete LH resistance
Centre de Génétique Humaine - Erasme ULB
Agammaglobulinemia
PIK3R1
Autosomal agammaglobulinemia
Centrum Menselijke Erfelijkheid - KUL
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