Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
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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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- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Kabuki syndrome
- KBG syndrome
- Hennekam syndrome
- Achondroplasia
- ADNP syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Zentrum für Genetische Herz- und Gefäßerkrankungen (ZGH) am Universitätsklinikum Würzburg
Zentrum für Seltene Erkrankungen - Referenzzentrum Nordbayern (ZESE)
Am Schwarzenberg 15
97078 Würzburg
0931 20146301
0931 201646457
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Email
- Familial atrial fibrillation
- Fabry disease
- Leber hereditary optic neuropathy
- Duchenne and Becker muscular dystrophy
- Marfan syndrome
- Familial abdominal aortic aneurysm
- Barth syndrome
- Beckwith-Wiedemann syndrome
- Familial bicuspid aortic valve
- Genetic cardiac rhythm disease
- Friedreich ataxia
- Familial long QT syndrome
- Noonan syndrome
- Gaucher disease type 3
- Rare cardiomyopathy