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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- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- Aicardi-Goutières syndrome
- Hennekam syndrome
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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- Leber hereditary optic neuropathy
- Familial atrial fibrillation
- Fabry disease
- Marfan syndrome
- Barth syndrome
- Rare cardiomyopathy
- Beckwith-Wiedemann syndrome
- Familial abdominal aortic aneurysm
- Familial bicuspid aortic valve
- Gaucher disease type 3
- Noonan syndrome
- Duchenne and Becker muscular dystrophy
- Genetic cardiac rhythm disease
- Friedreich ataxia
- Familial long QT syndrome