GMS syndrome
All Entries 2
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Aicardi-Goutières syndrome
- Kabuki syndrome
- Achondroplasia
- Hennekam syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- KBG syndrome
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Spondyloepiphyseal dysplasia congenita
- Diastrophic dysplasia
- Thanatophoric dysplasia
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- FGFR3-related chondrodysplasia
- Achondroplasia
- Silver-Russell syndrome
- Seckel syndrome
- Laron syndrome
Parent facilities 0
Genetic Advices 0
Care facilities 1
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Aicardi-Goutières syndrome
- Kabuki syndrome
- Achondroplasia
- Hennekam syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- KBG syndrome
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion 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
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Spondyloepiphyseal dysplasia congenita
- Diastrophic dysplasia
- Thanatophoric dysplasia
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- FGFR3-related chondrodysplasia
- Achondroplasia
- Silver-Russell syndrome
- Seckel syndrome
- Laron syndrome