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