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