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Laboratory
Hypophosphatasia
ALPL
Adult hypophosphatasia
,
Infantile hypophosphatasia
,
Odontohypophosphatasia
,
Perinatal lethal hypophosphatasia
,
Childhood-onset hypophosphatasia
,
Prenatal benign hypophosphatasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR)
STAT1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
,
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
,
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type 1 / Legius syndrome
NF1
,
SPRED1
Neurofibromatosis type 1
,
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
,
17q11 microdeletion syndrome
,
Legius syndrome
Centrum Medische Genetica - UZ Gent
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
,
TBP
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
,
Spinocerebellar ataxia type 17
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (SCA) type 17 - CAG/CAA repeat expansion
TBP
Spinocerebellar ataxia type 17
Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion
ATXN8
,
ATXN10
,
PPP2R2B
,
TBP
Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 10
,
Spinocerebellar ataxia type 12
,
Spinocerebellar ataxia type 17
Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion
ATXN8
,
TBP
,
ATN1
Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 17
,
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
Hemophilia A
F8
Hemophilia A
,
Severe hemophilia A
,
Moderate hemophilia A
,
Mild hemophilia A
,
Bleeding disorder in hemophilia A carriers
Centre de Génétique Médicale UCL
Hemophilia A
F8
Hemophilia A
,
Mild hemophilia A
,
Severe hemophilia A
,
Moderate hemophilia A
,
Bleeding disorder in hemophilia A carriers
Centrum Menselijke Erfelijkheid - KUL
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