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Occult macular dystrophy
RP1L1
Occult macular dystrophy
Centrum Medische Genetica - UZ Gent
Congenital Central Hypoventilation Syndrome / Ondine syndrome
PHOX2B
Congenital central hypoventilation syndrome
Centrum Medische Genetica - UZ Gent
Metabolic diseases with hepatic disorders (20 genes)
ATP7B
,
CPT1A
,
CYP27A1
,
DGUOK
,
DHCR7
,
EHHADH
,
GBE1
,
GNAS
,
GUSB
,
LIPA
,
MPV17
,
NEU1
,
NPC1
,
NPC2
,
POLG
,
SI
,
SLC25A13
,
SMPD1
,
TALDO1
,
TRMU
Metabolic diseases with hepatic disorders (20 genes) - UCL
Wilson disease
,
CPT deficiency, hepatic, type IA
,
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
,
Smith-Lemli-Opitz syndrome
,
Primary Fanconi renotubular syndrome
,
Glycogen storage disease IV
,
McCune-Albright syndrome
,
Mucopolysaccharidosis type 7
,
Wolman disease
,
Cholesteryl ester storage disease
,
Sialidosis type 1
,
Juvenile sialidosis type 2
,
Congenital sialidosis type 2
,
Niemann-Pick disease type C, severe perinatal form
,
Niemann-Pick disease type C, late infantile neurologic onset
,
Niemann-Pick disease type C, severe early infantile neurologic onset
,
Niemann-Pick disease type C, adult neurologic onset
,
Niemann-Pick disease type C, juvenile neurologic onset
,
Chronic visceral acid sphingomyelinase deficiency
,
Infantile neurovisceral acid sphingomyelinase deficiency
,
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
,
Citrullinemia type II
,
Transaldolase deficiency
,
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
,
Cerebrotendinous xanthomatosis
Centre de Génétique Médicale UCL
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene )
FGFR3
Muenke syndrome
Centrum Medische Genetica - UZ Gent
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
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