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Congenital myotonia (Becker-Thomsen disease) (CLCN1 gene)
CLCN1
Thomsen and Becker disease
Centrum Medische Genetica - UZ Brussel VUB
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centre de Génétique Médicale UCL
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centrum Menselijke Erfelijkheid - KUL
Occipital horn syndrome / Distal Spinal Muscular atrophy
ATP7A
Occipital horn syndrome
,
X-linked distal spinal muscular atrophy type 3
Centrum Medische Genetica - UZ Gent
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
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