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