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