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