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