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Down syndrome Trisomy 22 Edwards syndrome Trisomy 16 Digeorge syndrome Triploid syndrome Patau syndrome Trisomy x 22q13 deletion syndrome Sex chromosome anomalies Trisomy 8 Chromosome abnormality Fg syndrome Neurofibromatosis type i Noninvasive prenatal testing Focal cortical dysplasia Genetic disorder Aneuploidy Disorders of sex development Trisomy 9 Birth defect Chromosomal deletion syndrome Spina bifida Jacobsen syndrome Achondroplasia Congenital heart defect Turner syndrome Diastematomyelia Symbrachydactyly 46,xx/46,xy Mcleod syndrome Cat eye syndrome Trinucleotide repeat expansion Fragile x syndrome Aicardi syndrome Acrania Sickle cell trait Klinefelter syndrome Pfeiffer syndrome Sanfilippo syndrome Apert syndrome 1p36 deletion syndrome Schizencephaly Carpenter syndrome Autism and working memory Methylmalonic acidemia Microdeletion syndrome Emanuel syndrome Genetic discrimination Asperger True hermaphroditism Congenital myasthenic syndrome Severe combined immunodeficiency Pentasomy x Polysplenia Holoprosencephaly Proteus syndrome Noonan syndrome Neurodevelopmental disorder Robinow syndrome Amelogenesis imperfecta Microphthalmia Copy number variation 13q deletion syndrome Split-brain Neurofibromatosis type ii Nonverbal learning disorder Ebstein's anomaly Atrial septal defect Skewed x-inactivation Septo-optic dysplasia Dentin dysplasia 1q21.1 deletion syndrome Cancer syndrome Cephalic disorder Pseudohermaphroditism Cri du chat syndrome Leigh syndrome Hypoplastic left heart syndrome Goldenhar syndrome Cleidocranial dysostosis Tuberous sclerosis Dipygus Diastrophic dysplasia Familial dysautonomia Alexander disease I-cell disease Treacher collins syndrome Crouzon syndrome Learning disability Developmental disability Congenital adrenal hyperplasia Fetal hydantoin syndrome Tetrasomy x Frameshift mutation Iniencephaly Gonadal dysgenesis Tricuspid atresia Germline mosaicism Joubert syndrome

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