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