Epilepsy-microcephaly-skeletal dysplasia syndrome
Parent facilities 0
Genetic Advices 1
Institut für Medizinische Genetik und Humangenetik an der Charité Berlin
Berliner Centrum für Seltene Erkrankungen (BCSE) Charité Universitätsmedizin Berlin
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
- KBG syndrome
- ADNP syndrome
- Achondroplasia
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Kabuki syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- Hennekam syndrome
- Aicardi-Goutières syndrome
Kleinwachau Sächsisches Epilepsiezentrum Radeberg
Wachauer Straße 30
01454 Radeberg
- Other metabolic disease with epilepsy
- Childhood absence epilepsy
- Startle epilepsy
- Infantile spasms syndrome
- Chromosomal anomaly with epilepsy as a major feature
- Cerebral diseases of vascular origin with epilepsy
- Metabolic diseases with epilepsy
- Epilepsy-telangiectasia syndrome
- ARX-related epileptic encephalopathy
- Audiogenic seizures
- Cerebral malformation with epilepsy
- Metal transport or utilization disorder with epilepsy
- Infantile epilepsy syndrome
- Neonatal epilepsy syndrome