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