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