Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
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Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Rhizomelic chondrodysplasia punctata type 1
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Multiple osteochondromas
- Heart-hand syndrome
- Metachondromatosis
- Paralytic facial malformation
- Acromelic dysplasia
- Omodysplasia
- Achondroplasia
- Osteogenesis imperfecta
- Femur-fibula-ulna complex
- Fibrous dysplasia of bone
- Hypochondroplasia
- Dysosteosclerosis
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
Website
Email
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Aicardi-Goutières syndrome
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Achondroplasia
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder