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Waardenburg Syndrome types I and III
PAX3
Waardenburg syndrome type 1
,
Waardenburg syndrome type 3
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel)
EDN3
,
EDNRB
,
MITF
,
PAX3
,
SNAI2
,
SOX10
Waardenburg syndrome (6 genes) - UZA
Waardenburg syndrome type 1
,
Waardenburg syndrome type 2
,
Waardenburg syndrome type 3
,
Waardenburg-Shah syndrome
Centrum Medische Genetica - UZ Antwerpen
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)
CACNA1S
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
SCN4A
Hyperkalemic periodic paralysis
,
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
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
CYP2B6*6,*11,*18 genotyping - drug metabolism - Pharmacogenetics
CYP2B6
Efavirenz toxicity
Centre de Génétique Médicale UCL
Leydig cell hypoplasia or Precocious puberty, male-limited
LHCGR
Familial peripheral male-limited precocious puberty
,
Leydig cell hypoplasia due to partial LH resistance
,
Leydig cell hypoplasia due to complete LH resistance
Centre de Génétique Humaine - Erasme ULB
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