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