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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- Hereditary spastic paraplegia
- Myasthenia gravis
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Beta-propeller protein-associated neurodegeneration
- Neuroferritinopathy
- Pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Rare ataxia
- Huntington disease
- 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
089 71009253
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- Kabuki syndrome
- Achondroplasia
- ADNP syndrome
- KBG 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
- Aicardi-Goutières syndrome
- Hennekam syndrome
- Infantile spasms syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency