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
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Rare ataxia
- Neuroferritinopathy
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Infantile neuroaxonal dystrophy
- Mitochondrial disease
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
- Infantile spasms syndrome
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Achondroplasia
- Kabuki syndrome
- Rubinstein-Taybi syndrome
- KBG syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Aicardi-Goutières syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Achondroplasia
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- Spondyloepiphyseal dysplasia congenita
- Diastrophic dysplasia
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- FGFR3-related chondrodysplasia
- 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
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Hereditary spastic paraplegia
- Huntington disease
- COASY protein-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- Rare ataxia
- Neuroferritinopathy
- Classic pantothenate kinase-associated neurodegeneration
- Neurodegeneration with brain iron accumulation
- Infantile neuroaxonal dystrophy
- Mitochondrial disease
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
- Infantile spasms syndrome
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Achondroplasia
- Kabuki syndrome
- Rubinstein-Taybi syndrome
- KBG syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Aicardi-Goutières syndrome
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Achondroplasia
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- Spondyloepiphyseal dysplasia congenita
- Diastrophic dysplasia
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- FGFR3-related chondrodysplasia
- Seckel syndrome