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