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