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