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Myhre syndrome (hot spot mutation - p.I500)
SMAD4
Myhre syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypogonadotropic hypogonadism (33 genes)
Hypogonadotropic hypogonadism (33 genes) - VUB
Normosmic congenital hypogonadotropic hypogonadism
Centrum Medische Genetica - UZ Brussel VUB
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene)
FGFR1
Kallmann syndrome
,
Normosmic congenital hypogonadotropic hypogonadism
Centre de Génétique Humaine - CHU Sart-Tilman
Generalized Arterial Calcification of Infancy
ENPP1
,
ABCC6
Generalized arterial calcification of infancy
Centrum Medische Genetica - UZ Gent
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)
Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
Hemolytic uremic syndrome with DGKE deficiency
,
Atypical hemolytic uremic syndrome with anti-factor H antibodies
,
Atypical hemolytic uremic syndrome with complement gene abnormality
,
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
,
Atypical hemolytic-uremic syndrome with B factor anomaly
,
Atypical hemolytic-uremic syndrome with H factor anomaly
,
Atypical hemolytic-uremic syndrome with C3 anomaly
,
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
,
Atypical hemolytic-uremic syndrome with I factor anomaly
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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