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