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