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