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Amyotrophic lateral sclerosis (ALS) / Frontotemporal demention (FTD) - GGGGCC repeat expansion in C9ORF72
C9ORF72
Amyotrophic lateral sclerosis type 4
,
Frontotemporal dementia with motor neuron disease
Centrum Medische Genetica - UZ Gent
Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene)
C9ORF72
Amyotrophic lateral sclerosis
,
Frontotemporal dementia with motor neuron disease
,
Behavioral variant of frontotemporal dementia
,
Huntington disease-like syndrome due to C9ORF72 expansions
Centrum Menselijke Erfelijkheid - KUL
Frontotemporal lobar degeneration/ Amyotrophy Lateral Sclerosis (gene panel)
Frontotemporal lobar degeneration / Amyotrophy Lateral Sclerosis (4 genes) - KUL
Frontotemporal dementia with motor neuron disease
,
Amyotrophic lateral sclerosis
Centrum Menselijke Erfelijkheid - KUL
Multiple epiphyseal dysplasia
COL2A1
,
SLC26A2
Multiple epiphyseal dysplasia type 4
Centrum Medische Genetica - UZ Gent
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
Stickler syndrome (gene panel)
Stickler syndrome - UGent
Stickler syndrome type 1
,
Stickler syndrome type 2
,
Autosomal dominant otospondylomegaepiphyseal dysplasia
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
Bile Acid Primary Malabsorption
SLC10A2
Bile acid primary malabsorption
Centre de Génétique Médicale UCL
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