GMS syndrome
All Entries 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
- 22q11.2 deletion syndrome
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- Hennekam syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- ADNP syndrome
- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- FGFR3-related chondrodysplasia
- Achondroplasia
- Silver-Russell syndrome
- Spondyloepiphyseal dysplasia congenita
- Seckel syndrome
- Pseudoachondroplasia
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Non-acquired isolated growth hormone deficiency
Parent facilities 0
Genetic Advices 0
Care facilities 1
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
- 22q11.2 deletion syndrome
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- Hennekam syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- ADNP syndrome
- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- FGFR3-related chondrodysplasia
- Achondroplasia
- Silver-Russell syndrome
- Spondyloepiphyseal dysplasia congenita
- Seckel syndrome
- Pseudoachondroplasia
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Non-acquired isolated growth hormone deficiency