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