CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
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Zentrum für Klinische Genommedizin am Universitätsklinikum Dresden
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- Baraitser-Winter cerebrofrontofacial syndrome
- Hereditary nonpolyposis colon cancer
- Ehlers-Danlos syndrome
- Genetic cerebral malformation
- Marfan syndrome
- Ovarian cancer
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
- Rare malignant breast tumor
- Rare pervasive developmental disorder
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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
                            
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- 22q11.2 deletion syndrome
- Kabuki syndrome
- KBG syndrome
- Hennekam syndrome
- Achondroplasia
- ADNP syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome