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