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
Universitätsklinikum Carl Gustav Carus Dresden UniversitätsCentrum für Seltene Erkrankungen Dresden (USE)
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01307 Dresden
0351 4585136
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- Baraitser-Winter cerebrofrontofacial syndrome
- Rare pervasive developmental disorder
- Ehlers-Danlos syndrome
- Genetic cerebral malformation
- Marfan syndrome
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
- Rare malignant breast tumor
- Ovarian cancer
- Hereditary nonpolyposis colon cancer
Care facilities 1
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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- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- Hennekam syndrome
- Aicardi-Goutières syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- Achondroplasia
- Kabuki syndrome
- 22q11.2 deletion syndrome