Epilepsy-microcephaly-skeletal dysplasia syndrome
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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
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- 22q11.2 deletion syndrome
- Hennekam syndrome
- Achondroplasia
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- KBG syndrome
- Rubinstein-Taybi syndrome
- ADNP 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
- Epilepsy-telangiectasia syndrome
- Neonatal epilepsy syndrome
- Cerebral malformation with epilepsy
- Metabolic diseases with epilepsy
- Audiogenic seizures
- Metal transport or utilization disorder with epilepsy
- Cerebral diseases of vascular origin with epilepsy
- Other metabolic disease with epilepsy
- Infantile epilepsy syndrome
- Infantile spasms syndrome
- Childhood absence epilepsy
- Startle epilepsy
- Chromosomal anomaly with epilepsy as a major feature
- ARX-related epileptic encephalopathy