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Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene)
FGFR3
Thanatophoric dysplasia type 2
,
Thanatophoric dysplasia type 1
Centrum Medische Genetica - UZ Gent
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)
FGFR3
Thanatophoric dysplasia type 1
,
Thanatophoric dysplasia type 2
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)
FGFR3
Thanatophoric dysplasia type 1
,
Thanatophoric dysplasia type 2
Centrum Medische Genetica - UZ Antwerpen
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)
Hyperekplexia (gene panel-6 genes)
Hyperekplexia (6 genes) - IPG
Hereditary hyperekplexia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hyperekplexia (3 genes)
SLC6A5
,
GLRA1
,
GLRB
Hyperekplexia (3 genes) - ULG
Hereditary hyperekplexia
Centre de Génétique Humaine - CHU Sart-Tilman
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity
COL4A1
,
COL4A2
Familial porencephaly
,
HANAC syndrome
,
Retinal arterial tortuosity
Centrum Medische Genetica - UZ Gent
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