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Amyotrophic Lateral Sclerosis (ALS) (gene panel)
Amyotrophic Lateral Sclerosis (ALS) - UGent
Amyotrophic lateral sclerosis
,
Juvenile amyotrophic lateral sclerosis
,
Amyotrophic lateral sclerosis type 4
Centrum Medische Genetica - UZ Gent
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
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome
CXCR4
WHIM syndrome
Centrum Menselijke Erfelijkheid - KUL
Deficiency of Vitamin K-Dependent Clotting Factors
VKORC1
,
GGCX
Hereditary combined deficiency of vitamin K-dependent clotting factors
Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum with clotting deficiency
GGCX
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
,
Hereditary combined deficiency of vitamin K-dependent clotting factors
Centrum Medische Genetica - UZ Gent
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)
BSCL2
Autosomal dominant spastic paraplegia type 17
,
Severe neurodegenerative syndrome with lipodystrophy
,
Distal hereditary motor neuropathy type 5
,
Congenital generalized lipodystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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