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
UniversitätsCentrum für Seltene Erkrankungen Dresden (USE) Universitätsklinikum Carl Gustav Carus Dresden
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01307 Dresden
0351 4585136
0351 4586337
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- Rare pervasive developmental disorder
- Genetic cerebral malformation
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Marfan syndrome
- Ovarian cancer
- Ehlers-Danlos syndrome
- Hereditary nonpolyposis colon cancer
- Rare malignant breast tumor
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
089 71009253
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- Achondroplasia
- Infantile spasms 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
- ADNP syndrome
- Kabuki syndrome
- KBG syndrome
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome
- Hennekam syndrome