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