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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Email
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Mitochondrial trifunctional protein deficiency
- Rare renal disease
- Phenylketonuria
- Pediatric systemic lupus erythematosus
- Very long chain acyl-CoA dehydrogenase deficiency
- Cystic fibrosis
- Glycogen storage disease
- Maple syrup urine disease
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Primary bone dysplasia
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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Email
- ADNP syndrome
- Achondroplasia
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- Hennekam syndrome
- Aicardi-Goutières syndrome
- Kabuki syndrome
- KBG syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder