Combined oxidative phosphorylation defect type 7
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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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089 440057402
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- Mitochondrial disease
- Neuroferritinopathy
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Rare ataxia
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Leukodystrophy
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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- Infantile spasms syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- Hennekam syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome