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