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