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