GNB5-related intellectual disability-cardiac arrhythmia syndrome
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Behandlungs- und Forschungszentrum für seltene angeborene Herz- und Kreislauferkrankungen
Uniklinik RWTH Aachen Zentrum für Seltene Erkrankungen Aachen
Pauwelsstr. 30
52074 Aachen
0241 80 88981 /-80583
0241 80 82450
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Email
02418087087
0241 80 3387021
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- Triatrial heart
- Anomalous aortic origin of coronary artery
- Non-familial restrictive cardiomyopathy
- Transposition of the great arteries
- Familial long QT syndrome
- Congenital pericardium anomaly
- Rare combined vascular malformation
- Unclassified cardiomyopathy
- Congenital mitral malformation
- Familial restrictive cardiomyopathy
- Congenital pulmonary venous return anomaly
- Pulmonary artery or pulmonary branch anomaly
- Congenital mitral valve insufficiency and/or stenosis
- Congenital anomaly of the inferior vena cava
- Non-familial hypertrophic cardiomyopathy
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
TUM Klinikum Rechts der Isar Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Hennekam syndrome
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
- Achondroplasia
- Rubinstein-Taybi syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency