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