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