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