Epilepsy-microcephaly-skeletal dysplasia syndrome
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Genetic Advices 1
Institut für Medizinische Genetik und Humangenetik an der Charité Berlin
Charité Universitätsmedizin Berlin Berliner Centrum für Seltene Erkrankungen (BCSE)
Augustenburger Platz 1
13353 Berlin
030 450569122
030 450569915
Website
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
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- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Aicardi-Goutières syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Kabuki syndrome
- ADNP syndrome
- KBG syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Achondroplasia
Kleinwachau Sächsisches Epilepsiezentrum Radeberg
Wachauer Straße 30
01454 Radeberg
- Chromosomal anomaly with epilepsy as a major feature
- Metal transport or utilization disorder with epilepsy
- Cerebral diseases of vascular origin with epilepsy
- ARX-related epileptic encephalopathy
- Other metabolic disease with epilepsy
- Infantile epilepsy syndrome
- Neonatal epilepsy syndrome
- Metabolic diseases with epilepsy
- Cerebral malformation with epilepsy
- Audiogenic seizures
- Infantile spasms syndrome
- Startle epilepsy
- Childhood absence epilepsy
- Epilepsy-telangiectasia syndrome