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