X-linked creatine transporter deficiency
All Entries 5
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
TUM Klinikum Rechts der Isar Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Achondroplasia
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Kabuki syndrome
- Aicardi-Goutières syndrome
- KBG syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Neurodegeneration with brain iron accumulation
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Beta-propeller protein-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
- Neuroferritinopathy
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Hereditary spastic paraplegia
- Huntington disease
- Leukodystrophy
- COASY protein-associated neurodegeneration
- Rare ataxia
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- FGFR3-related chondrodysplasia
- Thanatophoric dysplasia
- Pseudoachondroplasia
- Silver-Russell syndrome
- Seckel syndrome
- Laron syndrome
- Achondroplasia
- Non-acquired isolated growth hormone deficiency
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Diastrophic dysplasia
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Spondyloepiphyseal dysplasia congenita
Parent facilities 0
Genetic Advices 0
Care facilities 4
Zentrum für seltene Stoffwechselerkrankungen der Medizinischen Hochschule Hannover
Medizinische Hochschule Hannover Zentrum für Seltene Erkrankungen Hannover
Carl-Neuberg-Straße 1
30625 Hannover
Zentrum für Stoffwechselerkrankungen (Villa Metabolica) der Universitätsmedizin Mainz
Universitätsmedizin Mainz Zentrum für Seltene Erkrankungen Mainz
Langenbeckstraße 1
55131 Mainz
06131 172025
06131 178470
Website
Email
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
TUM Klinikum Rechts der Isar Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Achondroplasia
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Kabuki syndrome
- Aicardi-Goutières syndrome
- KBG syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057470
089 440057402
Website
Email
- Neurodegeneration with brain iron accumulation
- Classic pantothenate kinase-associated neurodegeneration
- Mitochondrial disease
- Beta-propeller protein-associated neurodegeneration
- Atypical pantothenate kinase-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Myasthenia gravis
- Neuroferritinopathy
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Hereditary spastic paraplegia
- Huntington disease
- Leukodystrophy
- COASY protein-associated neurodegeneration
- Rare ataxia
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- FGFR3-related chondrodysplasia
- Thanatophoric dysplasia
- Pseudoachondroplasia
- Silver-Russell syndrome
- Seckel syndrome
- Laron syndrome
- Achondroplasia
- Non-acquired isolated growth hormone deficiency
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Diastrophic dysplasia
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Spondyloepiphyseal dysplasia congenita