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