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
Website
Email
- Hemophilia
- Congenital factor V deficiency
- Alpha-thalassemia
- Rhabdomyosarcoma
- Alveolar soft tissue sarcoma
- Von Willebrand disease
- Medulloblastoma
- Fanconi anemia
- Combined T and B cell immunodeficiency
- Beta-thalassemia
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Sickle cell anemia
- 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
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Kabuki syndrome
- KBG syndrome
- 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
- Achondroplasia
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Rubinstein-Taybi syndrome