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