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