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