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