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