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