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Buschke-Ollendorff / Melorheostosis with Osteopoikilosis
LEMD3
Buschke-Ollendorff syndrome
,
Melorheostosis with osteopoikilosis
,
Isolated osteopoikilosis
Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel)
COL2A1
,
COL11A1
,
COL9A1
,
COL9A2
Stickler syndrome (4 genes) - UZA
Stickler syndrome type 1
,
Stickler syndrome type 2
,
Autosomal recessive Stickler syndrome
Centrum Medische Genetica - UZ Antwerpen
Diffuse gastric cancer, hereditary
CDH1
,
CTNNA1
Hereditary diffuse gastric cancer
Centrum Medische Genetica - UZ Gent
Diffuse gastric cancer (CDH1 gene)
CDH1
Hereditary diffuse gastric cancer
Centre de Génétique Humaine - CHU Sart-Tilman
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)
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