Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
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Zentrum für seltene Erkrankungen am Clementine Kinderhospital
Theobald-Christ-Str. 16
60316 Frankfurt am Main
069 949920
069 94992302
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Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
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- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Mitochondrial trifunctional protein deficiency
- Maple syrup urine disease
- Fabry disease
- Phenylketonuria
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Rare renal disease
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Primary bone dysplasia
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- Kabuki syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- Achondroplasia
- Hennekam syndrome
- Aicardi-Goutières syndrome