Beta-propeller protein-associated neurodegeneration
All Entries 3
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ADNP syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
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
- Hereditary spastic paraplegia
- Mitochondrial membrane protein-associated neurodegeneration
- Mitochondrial disease
- Infantile neuroaxonal dystrophy
- Neuroferritinopathy
- Classic pantothenate kinase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Neurodegeneration with brain iron accumulation
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Neurodegeneration with brain iron accumulation
- Adult-onset dystonia-parkinsonism
- Neuroferritinopathy
- Kufor-Rakeb syndrome
- Aceruloplasminemia
- PLA2G6-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Woodhouse-Sakati syndrome
- Fatty acid hydroxylase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- 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
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ADNP syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
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
- Hereditary spastic paraplegia
- Mitochondrial membrane protein-associated neurodegeneration
- Mitochondrial disease
- Infantile neuroaxonal dystrophy
- Neuroferritinopathy
- Classic pantothenate kinase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Neurodegeneration with brain iron accumulation
Supportgroups 1
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Neurodegeneration with brain iron accumulation
- Adult-onset dystonia-parkinsonism
- Neuroferritinopathy
- Kufor-Rakeb syndrome
- Aceruloplasminemia
- PLA2G6-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Pantothenate kinase-associated neurodegeneration
- Woodhouse-Sakati syndrome
- Fatty acid hydroxylase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Autosomal recessive spastic paraplegia type 35