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