Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Parent facilities 0
Genetic Advices 0
Care facilities 2
Klinik und Poliklinik für Pädiatrische Hämatologie und Onkologie am Universitätsklinikum Hamburg-Eppendorf
Universitätsklinikum Hamburg-Eppendorf (UKE) Martin Zeitz Centrum für Seltene Erkrankungen (MZCSE)
Martinistraße 52
20251 Hamburg
040 741054270
040 741054601
Website
Email
- Retinoblastoma
- Rhabdomyosarcoma
- Medulloblastoma
- Alveolar soft tissue sarcoma
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Alpha-thalassemia
- Hemophilia
- Combined T and B cell immunodeficiency
- Beta-thalassemia
- Von Willebrand disease
- Congenital factor V deficiency
- Sickle cell anemia
- Fanconi anemia
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
- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- 22q11.2 deletion syndrome
- Achondroplasia
- Hennekam syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Kabuki syndrome
- ADNP syndrome
- KBG syndrome