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Usher syndrome, type IIA
USH2A
Usher syndrome type 2
Centrum Medische Genetica - UZ Gent
Usher syndrome (gene panel)
CDH23
,
CLRN1
,
WHRN
,
ADGRV1
,
MYO7A
,
PCDH15
,
PDZD7
,
USH1C
,
USH1G
,
USH2A
Usher syndrome (10 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Cataract, juvenile with microcornea and glucosuria
SLC16A12
Juvenile cataract-microcornea-renal glucosuria syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Kabuki syndrome (gene panel)
KMT2D
,
KDM6A
,
KMT2A
,
HNRNPK
,
RAP1A
,
RAP1B
,
PACS1
Kabuki (7 genes) - IPG
Kabuki syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hereditary Angioedema (7 genes)
PLG
,
F12
,
SERPING1
,
ANGPT1
,
KNG1
Angioedema (7 genes) - IPG
F12-related hereditary angioedema with normal C1Inh
,
Hereditary angioedema type 1
,
Hereditary angioedema type 2
,
PLG-related hereditary angioedema with normal C1Inh
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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