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