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Hemochromatosis hereditary type 2 to type 5 (5 genes)
HAMP
,
FTH1
,
SLC40A1
,
TFR2
,
HJV
Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL
HJV or HAMP-related hemochromatosis
,
TFR2-related hemochromatosis
,
Hemochromatosis type 4
,
Hemochromatosis type 5
Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 4 (SLC40A1 gene)
SLC40A1
Hemochromatosis type 4
Centre de Génétique Humaine - CHU Sart-Tilman
Congenital disorder of glycosylation (3 genes)
Congenital disorder of glycosylation (3 genes) - KUL
PMM2-CDG
,
ALG6-CDG
,
Congenital disorder of glycosylation
Centrum Menselijke Erfelijkheid - KUL
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)
BSCL2
Autosomal dominant spastic paraplegia type 17
,
Severe neurodegenerative syndrome with lipodystrophy
,
Distal hereditary motor neuropathy type 5
,
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
,
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Maternal uniparental disomy of chromosome 16
Centrum Medische Genetica - UZ Gent
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