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Achondrogenesis / Kniest dysplasia / Hypochondrogenesis
COL2A1
Achondrogenesis type 2
,
Hypochondrogenesis
,
Kniest dysplasia
,
Multiple epiphyseal dysplasia, Beighton type
,
Spondyloepiphyseal dysplasia congenita
,
Stickler syndrome type 1
Centrum Medische Genetica - UZ Gent
Multiple epiphyseal dysplasia
COL2A1
,
SLC26A2
Multiple epiphyseal dysplasia type 4
Centrum Medische Genetica - UZ Gent
Spondylo-epiphyseal dysplasia
NKX3-2
,
COL2A1
Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel)
COL2A1
,
COL11A1
,
COL9A1
,
COL9A2
Stickler syndrome (4 genes) - UZA
Stickler syndrome type 1
,
Stickler syndrome type 2
,
Autosomal recessive Stickler syndrome
Centrum Medische Genetica - UZ Antwerpen
Myoclonic epilepsy of Unverricht and Lundborg / Progressive myoclonus epilepsy /Baltic myoclonic epilepsy
CSTB
Progressive myoclonic epilepsy type 1
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Usher syndrome (gene panel)
CDH23
,
CLRN1
,
WHRN
,
ADGRV1
,
MYO7A
,
PCDH15
,
PDZD7
,
USH1C
,
USH1G
,
USH2A
Usher syndrome (10 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder ( Martinez-Frias) syndrome
RFX6
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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