Dysostosis with limb anomaly as a major feature
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Genetic Advices 1
Institut für Medizinische Genetik und Humangenetik an der Charité Berlin
Charité Universitätsmedizin Berlin Berliner Centrum für Seltene Erkrankungen (BCSE)
Augustenburger Platz 1
13353 Berlin
030 450569122
030 450569915
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Care facilities 1
Altonaer Kinderkrankenhaus
Bleickenallee 38
22763 Hamburg
040 889080
040 88908366
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- Autosomal recessive polycystic kidney disease
- Digestive tract malformation
- Diaphragmatic or abdominal wall malformation
- Neural tube defect
- Osteogenesis imperfecta
- Rare bone disease
- Large congenital melanocytic nevus
- Autosomal dominant polycystic kidney disease
- 22q11.2 deletion syndrome
- Neurocutaneous melanocytosis