Complex lethal osteochondrodysplasia
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Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Disorder of branched-chain amino acid metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Disorder of fatty acid oxidation and ketone body metabolism
- Glucose-galactose malabsorption
- Hereditary fructose intolerance
- Disorder of galactose metabolism
- Gluconeogenesis disorder
- Disorder of fructose metabolism
- Maple syrup urine disease
- Disorder of ketolysis
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln
Kerpener Straße 62
50937 Köln
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Omodysplasia
- Acromelic dysplasia
- Metachondromatosis
- Paralytic facial malformation
- Rhizomelic chondrodysplasia punctata type 1
- Fibrous dysplasia of bone
- Osteogenesis imperfecta
- Achondroplasia
- Dysosteosclerosis
- Hypochondroplasia
- Femur-fibula-ulna complex
- Multiple osteochondromas
- Heart-hand syndrome
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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- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Achondroplasia
- Hennekam syndrome
- KBG syndrome
- Kabuki syndrome
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome