Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
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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
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Email
- Hemophilia
- Alpha-thalassemia
- Sickle cell anemia
- Congenital factor V deficiency
- Combined T and B cell immunodeficiency
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Medulloblastoma
- Alveolar soft tissue sarcoma
- Rhabdomyosarcoma
- Retinoblastoma
- Fanconi anemia
- Beta-thalassemia
- Von Willebrand disease
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
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Email
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- Aicardi-Goutières syndrome
- KBG syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Achondroplasia
- 22q11.2 deletion syndrome
- Kabuki syndrome