Short stature-advanced bone age-early-onset osteoarthritis syndrome
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Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Medium chain acyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Mitochondrial trifunctional protein deficiency
- Maple syrup urine disease
- Cystic fibrosis
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Glycogen storage disease
- Pediatric systemic lupus erythematosus
- Fabry disease
- Phenylketonuria
- Rare renal disease
Zentrum für Skelettentwicklungsstörungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
0761 27043572
0761 2709644710
Website
Email
0761 27043572
0761 2709644710
Website
Email
Altonaer Kinderkrankenhaus
Bleickenallee 38
22763 Hamburg
040 889080
040 88908366
Website
Email
- Neural tube defect
- Digestive tract malformation
- Diaphragmatic or abdominal wall malformation
- Osteogenesis imperfecta
- 22q11.2 deletion syndrome
- Neurocutaneous melanocytosis
- Autosomal dominant polycystic kidney disease
- Large congenital melanocytic nevus
- Autosomal recessive polycystic kidney disease
- Rare bone 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
- Hennekam syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- 22q11.2 deletion syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Kabuki syndrome
- ADNP syndrome
- KBG syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Rubinstein-Taybi syndrome
- Achondroplasia
- Aicardi-Goutières syndrome