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
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- Hennekam syndrome
- ADNP syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- 22q11.2 deletion syndrome
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Hereditary spastic paraplegia
- Atypical pantothenate kinase-associated neurodegeneration
- Huntington disease
- Leukodystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial disease
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Rare ataxia
- Neurodegeneration with brain iron accumulation
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Kufor-Rakeb syndrome
- Neurodegeneration with brain iron accumulation
- Aceruloplasminemia
- Neuroferritinopathy
- Adult-onset dystonia-parkinsonism
- Infantile neuroaxonal dystrophy
- PLA2G6-associated neurodegeneration
- Fatty acid hydroxylase-associated neurodegeneration
- Woodhouse-Sakati syndrome
- Pantothenate kinase-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
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
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- Hennekam syndrome
- ADNP syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- 22q11.2 deletion syndrome
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Hereditary spastic paraplegia
- Atypical pantothenate kinase-associated neurodegeneration
- Huntington disease
- Leukodystrophy
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Mitochondrial disease
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Rare ataxia
- Neurodegeneration with brain iron accumulation
Supportgroups 1
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Kufor-Rakeb syndrome
- Neurodegeneration with brain iron accumulation
- Aceruloplasminemia
- Neuroferritinopathy
- Adult-onset dystonia-parkinsonism
- Infantile neuroaxonal dystrophy
- PLA2G6-associated neurodegeneration
- Fatty acid hydroxylase-associated neurodegeneration
- Woodhouse-Sakati syndrome
- Pantothenate kinase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Autosomal recessive spastic paraplegia type 35