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