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
089 440057400
089 440057402
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- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- 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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- KBG syndrome
- Achondroplasia
- ADNP syndrome
- Kabuki 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
- 22q11.2 deletion syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency