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