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Swachman-Bodian-Diamond syndrome
SBDS
Shwachman-Diamond syndrome
Centrum Menselijke Erfelijkheid - KUL
Mitochondrial disorders, mitchondrial DNA based (Full sequencing of mtDNA genome)
mitochondrial disorders, mitochondrial DNA based / mtDNA resequencing - VUB
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
,
Autosomal dominant progressive external ophthalmoplegia
,
Autosomal recessive progressive external ophthalmoplegia
,
Isolated cytochrome C oxidase deficiency
,
Maternally-inherited diabetes and deafness
,
Kearns-Sayre syndrome
,
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
,
Mitochondrial DNA depletion syndrome, myopathic form
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
,
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
,
Proximal myopathy with focal depletion of mitochondria
,
Pearson syndrome
Centrum Medische Genetica - UZ Brussel VUB
Maternally-inherited diabetes and deafness / Mitochondrial myopathy with reversible cytochrome C oxidase deficiency / mitochondrial tRNA glutamic acid
MT-TE
Maternally-inherited diabetes and deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Segawa syndrome (TH gene)
TH
Autosomal recessive dopa-responsive dystonia
Centrum Medische Genetica - UZ Brussel VUB
FRMD7-related infantile nystagmus / Nystagmus, infantile periodic alternating, X-linked
FRMD7
Nystagmus, infantile periodic alternating, X-linked
Centrum Medische Genetica - UZ Gent
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