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