Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Parent facilities 0
Genetic Advices 0
Care facilities 2
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
Website
Email
- ADNP syndrome
- KBG syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome
- Kabuki syndrome
- Hennekam syndrome
- Rubinstein-Taybi syndrome
- Achondroplasia
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- 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
Website
Email
- Genetic cardiac rhythm disease
- Noonan syndrome
- Friedreich ataxia
- Familial long QT syndrome
- Gaucher disease type 3
- Rare cardiomyopathy
- Familial atrial fibrillation
- Fabry disease
- Leber hereditary optic neuropathy
- Duchenne and Becker muscular dystrophy
- Familial abdominal aortic aneurysm
- Marfan syndrome
- Barth syndrome
- Beckwith-Wiedemann syndrome
- Familial bicuspid aortic valve