Biotin-thiamine-responsive basal ganglia disease
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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
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- Achondroplasia
- Hennekam syndrome
- 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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- COASY protein-associated neurodegeneration
- Neuroferritinopathy
- Pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Neurodegeneration with brain iron accumulation
- Mitochondrial membrane protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Infantile neuroaxonal dystrophy
- Atypical pantothenate kinase-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy