Combined oxidative phosphorylation defect type 7
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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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- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- Huntington disease
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- COASY protein-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Pantothenate kinase-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
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Hennekam syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- ADNP syndrome