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Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome
TYMP
,
POLG
,
POLG2
,
RRM2B
MNGIE syndrome (4 genes) - VUB
Mitochondrial neurogastrointestinal encephalomyopathy
Centrum Medische Genetica - UZ Brussel VUB
CHARGE syndrome
CHD7
CHARGE syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Perrault syndrome (gene panel)
TWNK
,
CLPP
,
HARS2
,
HSD17B4
,
LARS2
Perrault syndrome (5 genes) - UZA
Perrault syndrome
Centrum Medische Genetica - UZ Antwerpen
Hearing loss, STRC gene
STRC
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centrum Medische Genetica - UZ Antwerpen
Frequent hearing deficiency (4 genes)
GJB2
,
GJB6
,
STRC
,
OTOA
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique Humaine - Erasme ULB
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