Combined oxidative phosphorylation defect type 7
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Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
TUM Klinikum Rechts der Isar Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- Achondroplasia
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Kabuki syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
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 membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Leukodystrophy
- Myasthenia gravis
- Beta-propeller protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Mitochondrial disease
- Neurodegeneration with brain iron accumulation
- COASY protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Rare ataxia
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy