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