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