Beta-propeller protein-associated neurodegeneration
All Entries 3
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Rare ataxia
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Huntington disease
- Pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
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
Website
Email
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Aicardi-Goutières syndrome
- Hennekam syndrome
- Kabuki syndrome
- Achondroplasia
- Rubinstein-Taybi syndrome
- 22q11.2 deletion syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- ADNP syndrome
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Neuroferritinopathy
- PLA2G6-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Woodhouse-Sakati syndrome
- Infantile neuroaxonal dystrophy
- Kufor-Rakeb syndrome
- Adult-onset dystonia-parkinsonism
- Aceruloplasminemia
- Autosomal recessive spastic paraplegia type 35
- Fatty acid hydroxylase-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
Parent facilities 0
Genetic Advices 0
Care facilities 2
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Rare ataxia
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Huntington disease
- Pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
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
Website
Email
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Aicardi-Goutières syndrome
- Hennekam syndrome
- Kabuki syndrome
- Achondroplasia
- Rubinstein-Taybi syndrome
- 22q11.2 deletion syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- ADNP syndrome
Supportgroups 1
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Neuroferritinopathy
- PLA2G6-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Woodhouse-Sakati syndrome
- Infantile neuroaxonal dystrophy
- Kufor-Rakeb syndrome
- Adult-onset dystonia-parkinsonism
- Aceruloplasminemia
- Autosomal recessive spastic paraplegia type 35
- Fatty acid hydroxylase-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration