Syndrome d'épilepsie-microcéphalie-dysplasie squelettique
Parent facilities 0
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
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- KBG syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Achondroplasia
- Rubinstein-Taybi 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
- Kabuki syndrome
- ADNP syndrome
Kleinwachau Sächsisches Epilepsiezentrum Radeberg
Wachauer Straße 30
01454 Radeberg
- Cerebral malformation with epilepsy
- Epilepsy-telangiectasia syndrome
- Metabolic diseases with epilepsy
- Neonatal epilepsy syndrome
- Childhood absence epilepsy
- Startle epilepsy
- Infantile spasms syndrome
- Audiogenic seizures
- Chromosomal anomaly with epilepsy as a major feature
- Cerebral diseases of vascular origin with epilepsy
- Metal transport or utilization disorder with epilepsy
- Infantile epilepsy syndrome
- Other metabolic disease with epilepsy
- ARX-related epileptic encephalopathy