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
- Fabry disease
- Disorder of fructose metabolism
- Disorder of galactose metabolism
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
- Glucose-galactose malabsorption
- Glycogen storage disease
- Hereditary fructose intolerance
- Disorder of fatty acid oxidation and ketone body metabolism
- Gluconeogenesis disorder
- Disorder of ketolysis
- Maple syrup urine 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
- Omodysplasia
- Multiple osteochondromas
- Rhizomelic chondrodysplasia punctata type 1
- Acromelic dysplasia
- Osteogenesis imperfecta
- Metachondromatosis
- Paralytic facial malformation
- Achondroplasia
- Femur-fibula-ulna complex
- Heart-hand syndrome
- Dysosteosclerosis
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Fibrous dysplasia of bone
- Hypochondroplasia
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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- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome
- Kabuki syndrome
- Achondroplasia
- Hennekam syndrome
- KBG syndrome
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion syndrome