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