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Buschke-Ollendorff / Melorheostosis with Osteopoikilosis
LEMD3
Buschke-Ollendorff syndrome
,
Melorheostosis with osteopoikilosis
,
Isolated osteopoikilosis
Centrum Medische Genetica - UZ Gent
Coagulopathies (2 genes)
ITGA2B
,
ITGB3
Autosomal dominant macrothrombocytopenia
,
Glanzmann thrombasthenia
,
Fetal and neonatal alloimmune thrombocytopenia
Centre de Génétique Médicale UCL
Malformations of cortical development (235 genes)
Malformations of cortical development (235 genes) - VUB
Bilateral perisylvian polymicrogyria
,
Cobblestone lissencephaly without muscular or ocular involvement
,
Lissencephaly due to LIS1 mutation
,
Lissencephaly due to TUBA1A mutation
,
Lissencephaly syndrome, Norman-Roberts type
,
Lissencephaly type 1 due to doublecortin gene mutation
,
Microlissencephaly
,
Polymicrogyria due to TUBB2B mutation
,
Subcortical band heterotopia
,
X-linked lissencephaly with abnormal genitalia
Centrum Medische Genetica - UZ Brussel VUB
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centrum Medische Genetica - UZ Gent
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
,
Charcot-Marie-Tooth disease type 1E
Centrum Medische Genetica - UZ Antwerpen
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centre de Génétique Humaine - Erasme ULB
Charcot-Marie-Tooth type 1A (CMT1A) / Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
PMP22
Charcot-Marie-Tooth disease type 1A
,
Dejerine-Sottas syndrome
,
Hereditary neuropathy with liability to pressure palsies
Centrum Menselijke Erfelijkheid - KUL
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
Centre de Génétique Humaine - CHU Sart-Tilman
Charcot-Marie-Tooth (CMT1A, GJB1)
GJB1
,
PMP22
X-linked Charcot-Marie-Tooth disease type 1
,
Charcot-Marie-Tooth disease type 1A
Centre de Génétique Humaine - Erasme ULB
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