X-linked creatine transporter deficiency
All Entries 4
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Leukodystrophy
- Hereditary spastic paraplegia
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Neurodegeneration with brain iron accumulation
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
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Aicardi-Goutières syndrome
- Hennekam syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- ADNP syndrome
- 22q11.2 deletion syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Achondroplasia
- FGFR3-related chondrodysplasia
- Thanatophoric dysplasia
- Spondyloepiphyseal dysplasia congenita
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Diastrophic dysplasia
- Silver-Russell syndrome
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- Seckel syndrome
Parent facilities 0
Genetic Advices 0
Care facilities 3
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Zentrum für Seltene Erkrankungen Hannover Medizinische Hochschule Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
089 440057402
Website
Email
- Leukodystrophy
- Hereditary spastic paraplegia
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Mitochondrial disease
- Atypical pantothenate kinase-associated neurodegeneration
- Neuroferritinopathy
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Rare ataxia
- Neurodegeneration with brain iron accumulation
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
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Aicardi-Goutières syndrome
- Hennekam syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- ADNP syndrome
- 22q11.2 deletion syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Achondroplasia
- FGFR3-related chondrodysplasia
- Thanatophoric dysplasia
- Spondyloepiphyseal dysplasia congenita
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Diastrophic dysplasia
- Silver-Russell syndrome
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- Seckel syndrome