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