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