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