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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
Temple syndrome / Kagami-Ogata Syndrome
DLK1
,
MEG3
,
RTL1
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Temple syndrome due to paternal 14q32.2 hypomethylation
,
Temple syndrome due to paternal 14q32.2 microdeletion
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
,
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Centre de Génétique Médicale UCL
Malformations of cortical development (235 genes)
Malformations of cortical development (235 genes) - VUB
Bilateral perisylvian polymicrogyria
,
Cobblestone lissencephaly without muscular or ocular involvement
,
Lissencephaly due to LIS1 mutation
,
Lissencephaly due to TUBA1A mutation
,
Lissencephaly syndrome, Norman-Roberts type
,
Lissencephaly type 1 due to doublecortin gene mutation
,
Microlissencephaly
,
Polymicrogyria due to TUBB2B mutation
,
Subcortical band heterotopia
,
X-linked lissencephaly with abnormal genitalia
Centrum Medische Genetica - UZ Brussel VUB
Rokitansky syndrome
WNT4
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Centre de Génétique Humaine - CHU Sart-Tilman
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