Beta-propeller protein-associated neurodegeneration
All Entries 3
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
- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- 22q11.2 deletion syndrome
- Achondroplasia
- Hennekam syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Kabuki syndrome
- KBG syndrome
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Mitochondrial disease
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Leukodystrophy
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Pantothenate kinase-associated neurodegeneration
- Woodhouse-Sakati syndrome
- Beta-propeller protein-associated neurodegeneration
- PLA2G6-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- COASY protein-associated neurodegeneration
- Neuroferritinopathy
- Fatty acid hydroxylase-associated neurodegeneration
- Aceruloplasminemia
- Autosomal recessive spastic paraplegia type 35
- Kufor-Rakeb syndrome
- Adult-onset dystonia-parkinsonism
- Neurodegeneration with brain iron accumulation
Parent facilities 0
Genetic Advices 0
Care facilities 2
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
- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- 22q11.2 deletion syndrome
- Achondroplasia
- Hennekam syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Kabuki syndrome
- KBG syndrome
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Mitochondrial disease
- Neuroferritinopathy
- Atypical pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Leukodystrophy
Supportgroups 1
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Pantothenate kinase-associated neurodegeneration
- Woodhouse-Sakati syndrome
- Beta-propeller protein-associated neurodegeneration
- PLA2G6-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- COASY protein-associated neurodegeneration
- Neuroferritinopathy
- Fatty acid hydroxylase-associated neurodegeneration
- Aceruloplasminemia
- Autosomal recessive spastic paraplegia type 35
- Kufor-Rakeb syndrome
- Adult-onset dystonia-parkinsonism
- Neurodegeneration with brain iron accumulation