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