Combined oxidative phosphorylation defect type 7
Parent facilities 0
Genetic Advices 0
Care facilities 2
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Infantile spasms syndrome
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Aicardi-Goutières syndrome
- Rubinstein-Taybi syndrome
- Achondroplasia
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Kabuki syndrome
- KBG syndrome
- ADNP syndrome
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
- Mitochondrial disease
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Neuroferritinopathy
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Infantile neuroaxonal dystrophy
- Beta-propeller protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- COASY protein-associated neurodegeneration