THOC6-related developmental delay-microcephaly-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
- Dysosteosclerosis
- Achondroplasia
- Multiple osteochondromas
- Fibrous dysplasia of bone
- Brachydactyly-long thumb syndrome
- Femur-fibula-ulna complex
- OBSOLETE: Peripheral dysostosis
- Hypochondroplasia
- Heart-hand syndrome
- Rhizomelic chondrodysplasia punctata type 1
- Osteogenesis imperfecta
- Metachondromatosis
- Omodysplasia
- Acromelic dysplasia
- Paralytic facial malformation
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
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- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Kabuki syndrome
- KBG syndrome
- ADNP syndrome
- Infantile spasms syndrome
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Aicardi-Goutières syndrome
- Rubinstein-Taybi syndrome
- Achondroplasia