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
- Huntington disease
- Rare ataxia
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
- Myasthenia gravis
- Mitochondrial disease
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
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
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- KBG syndrome
- Kabuki syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- Achondroplasia
- Aicardi-Goutières syndrome
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Fatty acid hydroxylase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Autosomal recessive spastic paraplegia type 35
- Pantothenate kinase-associated neurodegeneration
- Kufor-Rakeb syndrome
- Neurodegeneration with brain iron accumulation
- Neuroferritinopathy
- Aceruloplasminemia
- Woodhouse-Sakati syndrome
- PLA2G6-associated neurodegeneration
- Adult-onset dystonia-parkinsonism
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
- Huntington disease
- Rare ataxia
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Atypical pantothenate kinase-associated neurodegeneration
- Leukodystrophy
- Hereditary spastic paraplegia
- Myasthenia gravis
- Mitochondrial disease
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Classic pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
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
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- KBG syndrome
- Kabuki syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- Achondroplasia
- Aicardi-Goutières syndrome
Supportgroups 1
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Fatty acid hydroxylase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Autosomal recessive spastic paraplegia type 35
- Pantothenate kinase-associated neurodegeneration
- Kufor-Rakeb syndrome
- Neurodegeneration with brain iron accumulation
- Neuroferritinopathy
- Aceruloplasminemia
- Woodhouse-Sakati syndrome
- PLA2G6-associated neurodegeneration
- Adult-onset dystonia-parkinsonism