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