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Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome (hot spot mutation - m.8993T>C/G)
MT-ATP6
NARP 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
filaggrin gene
FLG
NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris
,
DERMATITIS, ATOPIC
Centre de Génétique Humaine - CHU Sart-Tilman
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