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