Complex lethal osteochondrodysplasia
Parent facilities 0
Genetic Advices 0
Care facilities 3
Zentrum für angeborene Stoffwechselerkrankungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Disorder of branched-chain amino acid metabolism
- Disorder of galactose metabolism
- Glucose-galactose malabsorption
- Disorder of ketolysis
- Disorder of fructose metabolism
- Disorder of fatty acid oxidation and ketone body metabolism
- Fabry disease
- Gluconeogenesis disorder
- Hereditary fructose intolerance
- Glycogen storage disease
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Hypochondroplasia
- Paralytic facial malformation
- Acromelic dysplasia
- Dysosteosclerosis
- OBSOLETE: Peripheral dysostosis
- Fibrous dysplasia of bone
- Brachydactyly-long thumb syndrome
- Achondroplasia
- Femur-fibula-ulna complex
- Multiple osteochondromas
- Heart-hand syndrome
- Metachondromatosis
- Omodysplasia
- Osteogenesis imperfecta
- Rhizomelic chondrodysplasia punctata type 1
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
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- Rubinstein-Taybi syndrome
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- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder