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
- Femur-fibula-ulna complex
- Paralytic facial malformation
- Hypochondroplasia
- Multiple osteochondromas
- Rhizomelic chondrodysplasia punctata type 1
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Dysosteosclerosis
- Metachondromatosis
- Fibrous dysplasia of bone
- Osteogenesis imperfecta
- Heart-hand syndrome
- Achondroplasia
- Omodysplasia
- Acromelic dysplasia
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
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Kabuki syndrome
- ADNP syndrome
- KBG syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Achondroplasia
- Aicardi-Goutières syndrome
- Hennekam syndrome