Biotin-thiamine-responsive basal ganglia disease
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Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
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80336 München
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- Neurodegeneration with brain iron accumulation
- Myasthenia gravis
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Huntington disease
- Pantothenate kinase-associated neurodegeneration
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Leukodystrophy
- COASY protein-associated neurodegeneration
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
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- ADNP syndrome
- KBG syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Hennekam syndrome
- Kabuki syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency