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Ellis-van Creveld syndrome (2 genes)
EVC
,
EVC2
Ellis-van Creveld (2 genes) - IPG
Ellis Van Creveld syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y
SRY
45,X/46,XY mixed gonadal dysgenesis
,
46,XX ovotesticular difference of sex development
,
46,XX testicular difference of sex development
,
46,XY complete gonadal dysgenesis
,
46,XY partial gonadal dysgenesis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y
SRY
45,X/46,XY mixed gonadal dysgenesis
,
46,XY complete gonadal dysgenesis
,
46,XX ovotesticular difference of sex development
,
46,XY partial gonadal dysgenesis
,
46,XX testicular difference of sex development
Centre de Génétique Humaine - CHU Sart-Tilman
Beta-globin hemoglobinopathies
HBB
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Sickle cell-beta-thalassemia disease syndrome
,
Sickle cell-hemoglobin D disease syndrome
,
Sickle cell-hemoglobin E disease syndrome
,
Sickle cell-hemoglobin C disease syndrome
,
Hemoglobin E-beta-thalassemia syndrome
,
Hemoglobin C-beta-thalassemia syndrome
,
Delta-beta-thalassemia
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
,
Dominant beta-thalassemia
,
Hemoglobin C disease
,
Hemoglobin D disease
,
Hemoglobin E disease
,
Hemoglobin M disease
,
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Sickle cell anemia
Centre de Génétique Médicale UCL
Beta-globin hemoglobinopathies
HBB
Sickle cell anemia
,
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Sickle cell-hemoglobin D disease syndrome
,
Sickle cell-hemoglobin E disease syndrome
,
Sickle cell-beta-thalassemia disease syndrome
,
Sickle cell-hemoglobin C disease syndrome
,
Hemoglobin C disease
,
Hemoglobin E disease
,
Hemoglobin E-beta-thalassemia syndrome
,
Hemoglobin C-beta-thalassemia syndrome
,
Delta-beta-thalassemia
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
,
Hemoglobin Lepore-beta-thalassemia syndrome
,
Hemoglobin M disease
,
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Hemoglobin D disease
Centre de Génétique Humaine - Erasme ULB
Beta-globin hemoglobinopathies (Hot-spot mutations : Sickle cell disease (HBS), hemoglobin C, hemoglobin E or Hemoglobin D)
HBB
Sickle cell anemia
,
Hemoglobin C disease
,
Hemoglobin E disease
,
Hemoglobin D disease
,
Delta-beta-thalassemia
,
Sickle cell-beta-thalassemia disease syndrome
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
Centre de Génétique Humaine - CHU Sart-Tilman
Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal dominant 6/14 / Wolfram syndrome
WFS1
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
,
Wolfram syndrome
Centrum Medische Genetica - UZ Antwerpen
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centrum Medische Genetica - UZ Antwerpen
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