Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
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Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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- 22q11.2 deletion syndrome
- Kabuki syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- Hennekam syndrome
- Achondroplasia
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
- Fabry disease
- Familial atrial fibrillation
- Duchenne and Becker muscular dystrophy
- Marfan syndrome
- Barth syndrome
- Familial long QT syndrome
- Gaucher disease type 3
- Genetic cardiac rhythm disease
- Friedreich ataxia
- Familial bicuspid aortic valve
- Beckwith-Wiedemann syndrome
- Rare cardiomyopathy
- Familial abdominal aortic aneurysm
- Leber hereditary optic neuropathy
- Noonan syndrome