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