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