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
- Achondroplasia
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Rubinstein-Taybi 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
- Audiogenic seizures
- Metal transport or utilization disorder with epilepsy
- ARX-related epileptic encephalopathy
- Neonatal epilepsy syndrome
- Infantile epilepsy syndrome
- Metabolic diseases with epilepsy
- Other metabolic disease with epilepsy
- Cerebral malformation with epilepsy
- Cerebral diseases of vascular origin with epilepsy
- Childhood absence epilepsy
- Infantile spasms syndrome
- Epilepsy-telangiectasia syndrome
- Chromosomal anomaly with epilepsy as a major feature
- Startle epilepsy