Pyridoxal phosphate-responsive seizures
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Zentrum für seltene neurologische Erkrankungen der Universitätsmedizin Frankfurt
Frankfurter Referenzzentrum für Seltene Erkrankungen (FRZSE) Universitätsmedizin Frankfurt
Schleusenweg 2-16
60528 Frankfurt am Main
069 63015769
069 63016842
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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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- Aicardi-Goutières syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- 22q11.2 deletion syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Hennekam syndrome
- Achondroplasia
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- Kabuki syndrome
- ADNP syndrome
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
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- Hereditary spastic paraplegia
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Rare ataxia
- Infantile neuroaxonal dystrophy
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- Mitochondrial disease
- COASY protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Classic pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Pantothenate kinase-associated neurodegeneration
- Huntington disease