Pyridoxine-dependent epilepsy
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Zentrum für Seltene Stoffwechselerkrankungen der Universitätsmedizin Göttingen
Centre for Rare Diseases Göttingen
Robert-Koch-Straße 40
37075 Göttingen
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Hereditary spastic paraplegia
- Huntington disease
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
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
Website
Email
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Kabuki syndrome
- Aicardi-Goutières syndrome
- KBG syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Achondroplasia
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency