Biotin-thiamine-responsive basal ganglia disease
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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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- Huntington disease
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- COASY protein-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Pantothenate kinase-associated neurodegeneration
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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- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
- 22q11.2 deletion syndrome
- Aicardi-Goutières syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- Achondroplasia