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