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