Intellectual disability-short stature-hypertelorism syndrome
All Entries 2
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Aicardi-Goutières syndrome
- 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
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Achondroplasia
- Non-acquired isolated growth hormone deficiency
- Spondyloepiphyseal dysplasia congenita
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Pseudoachondroplasia
- FGFR3-related chondrodysplasia
- Silver-Russell syndrome
- Laron syndrome
- Seckel syndrome
Parent facilities 0
Genetic Advices 0
Care facilities 1
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Aicardi-Goutières syndrome
- 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
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Achondroplasia
- Non-acquired isolated growth hormone deficiency
- Spondyloepiphyseal dysplasia congenita
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Pseudoachondroplasia
- FGFR3-related chondrodysplasia
- Silver-Russell syndrome
- Laron syndrome
- Seckel syndrome