Epilepsy-microcephaly-skeletal dysplasia syndrome
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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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- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
- Achondroplasia
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Aicardi-Goutières syndrome
- Hennekam syndrome
Kleinwachau Sächsisches Epilepsiezentrum Radeberg
Wachauer Straße 30
01454 Radeberg
- Infantile epilepsy syndrome
- Cerebral diseases of vascular origin with epilepsy
- Other metabolic disease with epilepsy
- Childhood absence epilepsy
- Infantile spasms syndrome
- Chromosomal anomaly with epilepsy as a major feature
- Startle epilepsy
- ARX-related epileptic encephalopathy
- Epilepsy-telangiectasia syndrome
- Cerebral malformation with epilepsy
- Neonatal epilepsy syndrome
- Metabolic diseases with epilepsy
- Metal transport or utilization disorder with epilepsy
- Audiogenic seizures