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