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