Beta-propeller protein-associated neurodegeneration
All Entries 3
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Achondroplasia
- KBG syndrome
- Hennekam syndrome
- Kabuki syndrome
- Aicardi-Goutières syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Huntington disease
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
- Neurodegeneration with brain iron accumulation
- Myasthenia gravis
- Neuroferritinopathy
- Infantile neuroaxonal dystrophy
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Neurodegeneration with brain iron accumulation
- Neuroferritinopathy
- PLA2G6-associated neurodegeneration
- Aceruloplasminemia
- Kufor-Rakeb syndrome
- Adult-onset dystonia-parkinsonism
- Pantothenate kinase-associated neurodegeneration
- Woodhouse-Sakati syndrome
- Infantile neuroaxonal dystrophy
- Fatty acid hydroxylase-associated neurodegeneration
- Autosomal recessive spastic paraplegia type 35
- COASY protein-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 TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Achondroplasia
- KBG syndrome
- Hennekam syndrome
- Kabuki syndrome
- Aicardi-Goutières syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Mitochondrial membrane protein-associated neurodegeneration
- Hereditary spastic paraplegia
- Rare ataxia
- Pantothenate kinase-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Huntington disease
- Beta-propeller protein-associated neurodegeneration
- Leukodystrophy
- Neurodegeneration with brain iron accumulation
- Myasthenia gravis
- Neuroferritinopathy
- Infantile neuroaxonal dystrophy
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Classic pantothenate kinase-associated neurodegeneration
Supportgroups 1
Hoffnungsbaum e.V.
Wilhelm-Gülpen-Str. 22
52146
Würselen
- Neurodegeneration with brain iron accumulation
- Neuroferritinopathy
- PLA2G6-associated neurodegeneration
- Aceruloplasminemia
- Kufor-Rakeb syndrome
- Adult-onset dystonia-parkinsonism
- Pantothenate kinase-associated neurodegeneration
- Woodhouse-Sakati syndrome
- Infantile neuroaxonal dystrophy
- Fatty acid hydroxylase-associated neurodegeneration
- Autosomal recessive spastic paraplegia type 35
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration