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