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