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Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg)
FGFR1
Pfeiffer syndrome type 1
Centrum Medische Genetica - UZ Antwerpen
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene)
FGFR1
Kallmann syndrome
,
Normosmic congenital hypogonadotropic hypogonadism
Centre de Génétique Humaine - CHU Sart-Tilman
Netherton syndrome (SPINK5 gene)
SPINK5
Netherton syndrome
Centrum Medische Genetica - UZ Brussel VUB
Vas deferens, congenital bilateral aplasia of, X-linked (ADGRG2 gene)
ADGRG2
Congenital bilateral absence of vas deferens
Centrum Medische Genetica - UZ Brussel VUB
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome
CXCR4
WHIM syndrome
Centrum Menselijke Erfelijkheid - KUL
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