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