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Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity
COL4A1
,
COL4A2
Familial porencephaly
,
HANAC syndrome
,
Retinal arterial tortuosity
Centrum Medische Genetica - UZ Gent
Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal dominant 6/14 / Wolfram syndrome
WFS1
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
,
Wolfram syndrome
Centrum Medische Genetica - UZ Antwerpen
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centrum Medische Genetica - UZ Antwerpen
Lissencephaly / subcortical band heterotopia
PAFAH1B1
Lissencephaly due to LIS1 mutation
,
Subcortical band heterotopia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly, X-linked / subcortical band heterotopia
DCX
Lissencephaly type 1 due to doublecortin gene mutation
,
Subcortical band heterotopia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
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