Developmental Disorders
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CHARGE syndrome
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Achondroplasia
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Apert syndrome
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Autism
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Blepharophimosi ptosis and epicanthus inversus syndrome - BPES
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Carpenter syndrome 1 - CRPT1
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Cornelia de Lange syndrome 1 - CDLS1
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Cornelia de Lange syndrome 2 - CDLS2
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Cornelia de Lange syndrome 5 - CDLS5
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Craniosynostosis 4
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Crouzon syndrome
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Developmental Delay
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DiGeorge syndrome
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Epileptic encephalopathy early infantile 2 - Rett syndrome atypical
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Fetal akinesia
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Galloway-Mowat syndrome
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Hypochondrioplasia
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Jackson-Weiss syndrome
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Langer Mesomelic dysplasia
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Microcephaly
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Microcephaly 1 primary autosomal recessive
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Microcephaly 2 primary autosomal recessive
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Microcephaly 5 primary autosomal recessive
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Microcephaly 6 primary autosomal recessive
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Microcephaly 7 primary autosomal recessive
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Muenke syndrome
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Pfeiffer syndrome
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Rett syndrome
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Rett syndrome congenital variant
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Saethre-Chotzen syndrome - SCS
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Supravalvular aortic stenosis
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Tay Sachs disease
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Thanatophoric Dysplasia
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UPD14 Syndrome
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van der Woude Syndrome1-VWS1
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Williams-Beuren syndrome WBS