Developmental Disorders
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Achondroplasia
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Apert syndrome
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Blepharophimosis ptosis and epicanthus inversus syndrome BPES
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Carpenter syndrome
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Congenital anomalies of kidney and urinary tract
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Craniosynostosis
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Crouzon syndrome
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DiGeorge syndrome
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Disorders of sex development DSD
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Fetal akinesia
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Galloway-Mowat syndrome
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Hypochondrioplasia
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Langer mesomelic dysplasia
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Leri-Weill dyschondrosteosis
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Microcephaly
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Microcephaly 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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Roberts syndrome
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Saethre-Chotzen syndrome SCS
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Short stature idiopathic X-linked
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Supravalvular aortic stenosis
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Tay-Sachs disease
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Thanatophoric dysplasia
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TRP syndrome
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Van der Woude syndrome