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