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