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