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